Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction (scientific article (publication date: November 1989))

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Q28143383	Common polymorphisms and alternative splicing in the ILT3 gene are not associated with atopy
Q50759089	Comparative analysis of ras proto-oncogene mutations in selected mammalian tumors.
Q33813804	Comparative evaluation of prokaryotic 16S rDNA clone libraries and SSCP in groundwater samples
Q48867876	Comparative genomic hybridization and mutation analyses of sporadic schwannomas.
Q77918341	Comparison of detection platforms and post-polymerase chain reaction DNA purification methods for use in conjunction with Cleavase fragment length polymorphism analysis
Q42281113	Comparison of p53 gene mutation and protein overexpression in colorectal carcinomas
Q42991523	Comparison of serum and liver hepatitis C virus quasispecies in HCV-related hepatocellular carcinoma
Q24649561	Compatibility counts: MHC-associated mate choice in a wild promiscuous primate
Q70807759	Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants
Q38356603	Complementation of mutation in acyl-CoA:cholesterol acyltransferase (ACAT) fails to restore sterol regulation in ACAT-defective sterol-resistant hamster cells
Q72401225	Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism
Q24536238	Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
Q54282626	Complete mutation detection using unlabeled chemical cleavage.
Q62583365	Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR
Q24318860	Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency
Q44019182	Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
Q50484806	Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
Q48359195	Conformational SERS Classification of K-Ras Point Mutations for Cancer Diagnostics.
Q34204127	Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene
Q35598442	Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene
Q43110725	Considerations in adding mutation detection services to a sequencing core facility
Q37597399	Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations
Q35194318	Constitutional 1p36 deletion in a child with neuroblastoma.
Q73208050	Construction of a bovine chromosome 19 linkage map with an interspecies hybrid backcross
Q33969699	Contrasting patterns of nucleotide sequence variation at the glucose dehydrogenase (Gld) locus in different populations of Drosophila melanogaster
Q73849389	Correct heteroduplex formation for mutation detection analysis
Q44791738	Correlation analysis between three novel SNPs of the Src gene in bovine and milk production traits
Q73062611	Correlation between K-ras gene mutation and prognosis of patients with nonsmall cell lung carcinoma
Q52043298	Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis.
Q77174932	Correlation of TP53 mutations and p53 expression in ovarian tumors
Q36108223	Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology
Q57735569	Correlation of p53 Mutations in ThinPrep-Processed Fine Needle Breast Aspirates with Surgically Resected Breast Cancers
Q37135934	Correlation of p53 over-expression and alteration in p53 gene detected by polymerase chain reaction-single strand conformation polymorphism in adenocarcinoma of gastric cancer patients from India
Q41093325	Culicoides variipennis and bluetongue disease. Research on arthropod-borne animal diseases for control and prevention in the year 2000.
Q35969823	Culture of adult ascidians and ascidian genetics
Q45750578	Cumulation of TP53 mutations and p16INK4A/p15INK4B homozygous deletions in human papilloma virus type 16 positive scrotal cancer
Q40484307	Current methods of mutation detection
Q34145672	Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes
Q42673775	Cystic fibrosis in a low-incidence population: two major mutations in Finland
Q37248474	Cystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatment
Q24316503	Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
Q47072027	DAMB, a novel dopamine receptor expressed specifically in Drosophila mushroom bodies
Q40584416	DNA diagnosis in monogenic diseases
Q70994516	DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia
Q41273555	DNA fingerprinting techniques for microorganisms. A proposal for classification and nomenclature
Q43778331	DNA sequence variants of the platelet-derived growth factor A-chain gene
Q34607765	DNA sequence variation and the recombinational landscape in Drosophila pseudoobscura: a study of the second chromosome.
Q35196862	DNA typing and genetic mapping with trimeric and tetrameric tandem repeats
Q68322151	DNA typing in hereditary disease
Q42854149	DNA variation at the invertase locus invGE/GF is associated with tuber quality traits in populations of potato breeding clones
Q28271794	De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
Q73043596	Decreased expression and rare somatic mutation of the CIP1/WAF1 gene in human hepatocellular carcinoma
Q24317312	Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption
Q59012185	Deficiencies in sight with the candidate gene approach
Q39570039	Deletion and methylation of the tumour suppressor gene p16/CDKN2 in primary head and neck squamous cell carcinoma.
Q33901163	Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young
Q24311566	Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B
Q73081843	Deletion of three distinct regions on chromosome 13q in human non-small-cell lung cancer
Q34297104	Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa
Q35788019	Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas
Q45291097	Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease
Q71708891	Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
Q33588367	Demystified ... p53.
Q42499418	Deregulation of the p16-cyclin D1/cyclin-dependent kinase 4-retinoblastoma pathway involved in the rat bladder carcinogenesis induced by terephthalic acid-calculi
Q38312716	Description and functional implications of a novel mutation in the sex-determining gene SRY.
Q35196947	Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis
Q43038220	Detection and analysis of replicating hepatitis C virus RNA in hepatocellular carcinoma tissues
Q70635380	Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining
Q24670293	Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
Q71019312	Detection and evaluation of p53 intron 2 polymorphism in lung carcinomas in Hong Kong
Q54462035	Detection and identification of Tetratrichomonas in a preputial wash from a bull by PCR and SSCP.
Q39789713	Detection and identification of ciprofloxacin-resistant Yersinia pestis by denaturing high-performance liquid chromatography
Q33631192	Detection and mapping of mismatched base pairs in DNA molecules by atomic force microscopy
Q71890039	Detection and quantification of point mutations in mitochondrial DNA by PCR
Q52528307	Detection of BCL-6 rearrangements and p53 mutations in Malt-lymphomas.
Q68327258	Detection of DNA sequence polymorphisms in carcinogen metabolism genes by polymerase chain reaction
Q72800053	Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA)
Q35833808	Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing
Q46376502	Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect
Q68079298	Detection of a common mutation of the catalase gene in Japanese acatalasemic patients
Q41125958	Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease
Q70815555	Detection of aberrations in androgen receptor gene by analysis of single-stranded conformation polymorphisms in polymerase chain reaction products
Q38335475	Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer and retinoblastoma by an RNA difference plot
Q43213363	Detection of ciprofloxacin resistance mutations in Campylobacter jejuni gyrA by nonradioisotopic single-strand conformation polymorphism and direct DNA sequencing
Q40978570	Detection of clonal T-cell receptor gamma gene rearrangements in paraffin-embedded tissue by polymerase chain reaction and nonradioactive single-strand conformational polymorphism analysis
Q35833032	Detection of clonal immunoglobulin gene rearrangements by polymerase chain reaction amplification and single-strand conformational polymorphism analysis
Q52122320	Detection of exon polymorphisms in the human lactoferrin gene.
Q39780132	Detection of gyrA and gyrB mutations in quinolone-resistant clinical isolates of Escherichia coli by single-strand conformational polymorphism analysis and determination of levels of resistance conferred by two different single gyrA mutations
Q39469894	Detection of gyrA mutations among 335 Pseudomonas aeruginosa strains isolated in Japan and their susceptibilities to fluoroquinolones
Q71656273	Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients
Q35199356	Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis
Q40487856	Detection of mutant sequences by single-strand conformation polymorphism analysis
Q74000709	Detection of mutation of the p53 gene with high sensitivity by fluorescence-based PCR-SSCP analysis using low-pH buffer and an automated DNA sequencer in a large number of DNA samples
Q72161213	Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases
Q54536004	Detection of mutations by single-strand conformation polymorphism (SSCP) analysis and SSCP-hybrid methods.
Q74231196	Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
Q41636653	Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms
Q33750373	Detection of novel mutations in the gyrA gene of Staphylococcus aureus by nonradioisotopic single-strand conformation polymorphism analysis and direct DNA sequencing
Q52029961	Detection of opiate-enhanced increases in DNA damage, HPRT mutants, and the mutation frequency in human HUT-78 cells.
Q77385416	Detection of p53 gene mutations by single strand conformational polymorphism (SSCP) in human acute myeloid leukemia-derived cell lines
Q55006724	Detection of p53 gene mutations in human ovarian and endometrial cancers by polymerase chain reaction-single strand conformation polymorphism analysis
Q72610135	Detection of p53 mutations using nonradioactive SSCP analysis: p53 is not frequently mutated in myelodysplastic syndromes (MDS)
Q33687984	Detection of point mutations associated with resistance of Helicobacter pylori to clarithromycin by hybridization in liquid phase
Q48068471	Detection of point mutations in chloroplast genes of Antirrhinum majus L. I. Identification of a point mutation in the psaB gene of a photosystem I plastome mutant
Q40411835	Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s)
Q44274439	Detection of point mutations in p21ras genes
Q70485065	Detection of point mutations in the chloroplast genome by single-stranded conformation polymorphism analysis
Q57694760	Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques
Q71916629	Detection of polymorphism in the Trypanosoma cruzi TcP2 beta gene family by single strand conformational analysis (SSCA)
Q56893651	Detection of putative functional angiotensinogen (AGT) gene variants controlling plasma AGT levels by combined segregation-linkage analysis
Q40534310	Detection of single base differences using biotinylated nucleotides with very long linker arms
Q38307160	Detection of single nucleotide polymorphisms of the human mu opioid receptor gene by hybridization or single nucleotide extension on custom oligonucleotide gelpad microchips: potential in studies of addiction
Q53487426	Detection of single-base mutations in a mixed population of cells: A comparison of SSCP and direct sequencing
Q43835542	Detection of the common alpha-1-antitrypsin variants by denaturing gradient gel electrophoresis
Q43928315	Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)1
Q34124030	Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype
Q27485824	Determination of hepatitis C virus genotypes in the United States by cleavase fragment length polymorphism analysis
Q72930280	Determination of human alcohol dehydrogenase and acetaldehyde dehydrogenase genotypes by single strand conformation polymorphism in discontinuous buffer electrophoresis
Q35821817	Development and integration of molecular genetic tests into clinical practice: the US experience
Q30757623	Development of 112 unique expressed sequence tags from chicken liver using an arbitrarily primed reverse transcriptase-polymerase chain reaction and single strand conformation gel purification method
Q71659926	Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations
Q35545117	Development of analytical technology in pharmacogenetic research.
Q33772339	Developmental genetics in primitive chordates
Q35887525	Diagnostic approaches to renal genetic disorders using DNA analysis
Q35911864	Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant
Q68170270	Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations
Q56986278	Dideoxy fingerprinting: application to the genotyping of Echinococcus
Q55012429	Difference in allelic expression of genes probably associated with tumor progression in murine fibrosarcomas and cell lines.
Q38358374	Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype
Q50537310	Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
Q52533780	Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Q67491986	Differential elimination of radioiodine from single- and double-stranded 125I-DNA
Q70188904	Differential expression of the five C4-related genes of H-2w7 mice
Q42159803	Differential plasma clearance of murine acute-phase serum amyloid A proteins SAA1 and SAA2
Q50121706	Differentiation of Salmonella enterica serotype gallinarum biotype pullorum from biotype gallinarum by analysis of phase 1 flagellin C gene (fliC).
Q36542149	Differentiation of bacterial 16S rRNA genes and intergenic regions and Mycobacterium tuberculosis katG genes by structure-specific endonuclease cleavage.
Q40523995	Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene
Q35197164	Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
Q47908536	Direct determination of MUC5B promoter haplotypes based on the method of single-strand conformation polymorphism and their statistical estimation
Q35897198	Direct, automated detection of rifampin-resistant Mycobacterium tuberculosis by polymerase chain reaction and single-strand conformation polymorphism analysis
Q37695439	Directed polymerase evolution.
Q73498523	Discordance of p53 mutations of synchronous colorectal carcinomas
Q73293643	Discrepant expression of membrane and soluble isoforms of Fas (CD95/APO-1) in adult T-cell leukaemia: soluble Fas isoform is an independent risk factor for prognosis
Q56986287	Display of sequence variation in PCR-amplified mitochondrial DNA regions of Echinococcus by single-strand conformation polymorphism
Q58298636	Distinct molecular origins for Denys-Drash and Frasier syndromes
Q34617702	Distinct phospholipase C-gamma-dependent signaling pathways in the Drosophila eye and wing are revealed by a new small wing allele
Q73554874	Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers
Q52180085	Distinguishing Oesophagostomum dentatum from Oesophagostomum quadrispinulatum developmental stages by a single-strand conformation polymorphism method.
Q71574838	Distribution of TP53 mutations among acute leukemias with MLL rearrangements
Q42995830	Diversity of nucleotide sequences in hypervariable region 1 of hepatitis C virus in Japanese patients with chronic hepatitis C of unknown mode of transmission
Q43037097	Diversity of quasispecies in various disease stages of chronic hepatitis C virus infection and its significance in interferon treatment
Q79537574	Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
Q74023395	Dog class I gene DLA-88 histocompatibility typing by PCR-SSCP and sequencing
Q72234648	Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease
Q53468688	Double P53 point mutation in extramedullary blast crisis of chronic myelogenous leukemia.
Q54654746	Double, independent mutational events in the rpsL gene of Escherichia coli: an example of hypermutability?
Q59275449	Double- and single-strand conformation polymorphism analysis of point mutations and short tandem repeats
Q40773457	Drug-resistant human bladder-cancer cells are more sensitive to adenovirus-mediated wild-type p53 gene therapy compared to drug-sensitive cells.
Q34119351	Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
Q43032254	Dynamics of viral quasispecies during interferon therapy in non responder chronic hepatitis C patients
Q24597264	E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers
Q43595648	Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations
Q28245149	Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene
Q35017146	Editing does not exist for mammalian selenocysteine tRNAs
Q42983270	Effect of immunosuppression on composition of quasispecies population of hepatitis C virus in patients with chronic hepatitis C coinfected with human immunodeficiency virus
Q42996442	Effect of increasing dose of interferon on the evolution of hepatitis C virus 1b quasispecies.
Q39320934	Effect of luteinizing hormone/choriogonadotropin receptor (LHCGR) gene on chicken reproductive traits
Q35938966	Effect of non-tumor cell contamination on detection of p53 gene mutations in human gastric cancer cells by polymerase chain reaction single-strand conformation polymorphism analysis
Q46647371	Effect of polymer matrix and glycerol on rapid single-strand conformation polymorphism analysis by capillary and microchip electrophoresis for detection of mutations in K-ras gene
Q46574867	Effective screen of CRISPR/Cas9-induced mutants in rice by single-strand conformation polymorphism
Q51690337	Effects of sex and of gene variants in constitutive nitric oxide synthases on exhaled nitric oxide.
Q73552723	Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP
Q44103092	Eight novel mutations in the HEXA gene
Q72011819	Elevated content of p53 protein in the absence of p53 gene mutations as a possible prognostic marker for human renal cell tumors
Q36656161	Elevated frequency of microsatellite mutations in TK6 human lymphoblast clones selected for mutations at the thymidine kinase locus
Q53445619	Enhanced sensitivity to tumor growth and development in multistage skin carcinogenesis by transforming growth factor-alpha-induced epidermal growth factor receptor activation but not p53 inactivation.
Q52184022	Epidemiological study of p53 tumor suppressor gene mutations in patients from Luxembourg and the German Saar region with an advanced colorectal cancer using PCR-SSCP analysis.
Q41699363	Erythrocyte band 3 antigens and the Diego Blood Group System
Q33543760	Estimating the potential for adaptation of corals to climate warming
Q74578948	Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis
Q54002017	Evaluation of non-radioactive temperature gradient SSCP analysis and of temperature gradient gel electrophoresis for the detection of HPV 6-variants in condylomata acuminata and Buschke-Loewenstein tumours.
Q24311934	Evidence against DNA polymerase beta as a candidate gene for Werner syndrome
Q48111155	Evidence for Hox gene duplication in rainbow trout (Oncorhynchus mykiss): a tetraploid model species.
Q24679695	Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
Q58862180	Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas
Q39999953	Evidence of gene deletion of p21 (WAF1/CIP1), a cyclin-dependent protein kinase inhibitor, in thyroid carcinomas
Q41487082	Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.
Q45803399	Evolution of MHC-DRB class II polymorphism in the genus Apodemus and a comparison of DRB sequences within the family Muridae (Mammalia: Rodentia).
Q43033040	Evolution of the E2 region of hepatitis C virus in an infant infected by mother-to-infant transmission
Q45291040	Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease
Q35882254	Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus
Q70613513	Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism
Q72131293	Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease
Q72494087	Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: application to the detection of point mutations in acute leukemias
Q71604175	Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations
Q51955310	Expanding phenotype of XNP mutations: mild to moderate mental retardation.
Q73931437	Expression of p27 and p53 in cervical squamous cell carcinoma patients treated with radiotherapy alone: radiotherapeutic effect and prognosis
Q74436881	Expression of p53, MDM2 protein and Ki-67 antigen in recurrent meningiomas
Q41833145	Expression of p73, a novel protein related to the p53 tumour suppressor p53, and apoptosis in cholangiocellular carcinoma of the liver
Q71754682	Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus
Q47363332	Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: association with knee osteoarthritis.
Q64449722	Extensive diversity in New Zealand Dichelobacter nodosus strains from infected sheep and goats
Q54761295	Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
Q72569923	FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation
Q78128712	FHIT gene abnormalities in both benign and malignant thyroid tumours
Q45869608	Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling
Q45872051	Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications
Q41561723	Factors influencing the outcome of bone marrow transplants using unrelated donors.
Q55091634	Failure to detect mutations in the retinoblastoma protein-binding domain of the transcription factor E2F-1 in human cancers.
Q28295213	Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
Q35553545	Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity
Q46574115	Familial migraine with vertigo: no mutations found in CACNA1A.
Q43674543	Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.
Q41268641	Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
Q79934205	Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin
Q35182761	Fine structure analysis of the WT1 gene in sporadic Wilms tumors
Q58416513	Fluorescent differential display: Arbitrarily primed RT-PCR fingerprinting on an automated DNA sequencer
Q72912457	Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis
Q24673090	Four novel PEPD alleles causing prolidase deficiency
Q24564653	Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin
Q71861833	Frameshift mutation at codon 642 of the hMLH1 gene in human endometrial cancer
Q72387814	Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria
Q44023983	Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations
Q53429759	Frequency of ras mutations in liver neoplasms from B6C3F1 mice exposed to tetrafluoroethylene for two years.
Q38445188	Frequent genetic and biochemical alterations of the PI 3-K/AKT/PTEN pathway in head and neck squamous cell carcinoma
Q36079960	Frequent mutations of p53 gene in oesophageal squamous cell carcinomas with and without human papillomavirus (HPV) involvement suggest the dominant role of environmental carcinogens in oesophageal carcinogenesis.
Q44849091	Frequent occurrence of p53 gene mutations in uterine cancers at advanced clinical stage and with aggressive histological phenotypes
Q72387842	Frequent recombination in the human T-cell receptor beta gene complex
Q28297330	Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
Q60025459	From evolutionary developmental biology to genomics: towards a genome map of the free-living nematode Pristionchus pacificus
Q38300638	Functional inactivation but not structural mutation of p53 causes liver cancer.
Q34445518	Functional nucleic acid-based sensors for heavy metal ion assays
Q24313346	Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
Q42986349	GB virus C (GBV-C) infection in patients with chronic hepatitis C. Influence on liver disease and on hepatitis virus behaviour: effect of interferon alfa therapy
Q72661833	Gene analysis of K-, H-ras, p53, and retinoblastoma susceptibility genes in human lung cancer cell lines by the polymerase chain reaction/single-strand conformation polymorphism method
Q77802037	Gene mapping in zebrafish using single-strand conformation polymorphism analysis
Q32023736	Generation of dwarf goat (Capra hircus) clones following nuclear transfer with transfected and nontransfected fetal fibroblasts and in vitro-matured oocytes.
Q35555405	Genes coding for proteins in central nervous system myelin
Q54966492	Genetic Alteration of p53 in Some Patients with Adult T-Cell Leukemia
Q40173204	Genetic Diversity among Borrelia Strains Determined by Single-Strand Conformation Polymorphism Analysis of the ospC Gene and Its Association with Invasiveness
Q72662972	Genetic alterations at the splice junction of p53 gene in human hepatocellular carcinoma
Q73746916	Genetic alterations involving exon 3 of the beta-catenin gene do not play a role in adenocarcinomas of the esophagus
Q40735434	Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A.
Q41170278	Genetic analysis of atherosclerosis: a research paradigm for the common chronic diseases
Q70801369	Genetic analysis of chromosome 13 deletions in BCR/ABL negative chronic myeloproliferative disorders
Q72248786	Genetic analysis of p53 and RB1 tumor-suppressor genes in blast crisis of chronic myeloid leukemia
Q41497201	Genetic analysis of the catalytic domain of the GAP gene in human lung cancer cell lines
Q48064742	Genetic analysis of the cytochrome P-45OIIC18 (CYP2C18) gene and a novel member of the CYP2C subfamily
Q73371017	Genetic and transcriptional analysis of spindle checkpoint genes in bone marrow failure patients
Q45267872	Genetic changes and histopathological grades in human hepatocellular carcinomas
Q34651427	Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol
Q45875925	Genetic diagnosis of haemophilia A of Chinese origin
Q57611537	Genetic differentiation between the clam species Ruditapes decussatus (grooved carpet shell) and Venerupis pullastra (pullet carpet shell) by PCR-SSCP analysis
Q35548149	Genetic effects of polymorphisms in myogenic regulatory factors on chicken muscle fiber traits
Q34265507	Genetic evidence equating SRY and the testis-determining factor
Q35795085	Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression
Q46740035	Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases
Q28306136	Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels
Q40413201	Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis
Q24538960	Genetic mapping of ossification of the posterior longitudinal ligament of the spine
Q35888999	Genetic mapping of the BRCA1 region on chromosome 17q21.
Q24679578	Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism
Q57240747	Genetic polymorphisms of 5-LO
Q58291047	Genetic polymorphisms of t‐PA and PAI‐1 genes in the Korean population
Q77542995	Genetic relationships among Pseudomonas stutzeri strains based on molecular typing methods
Q38884977	Genetic variants of the TbAT1 adenosine transporter from African trypanosomes in relapse infections following melarsoprol therapy
Q38336508	Genetic variation in functionally important domains of the bovine mtDNA control region
Q54288145	Genetic variation in insulin receptor beta-chain exons among members of familial type 2 (non-insulin-dependent) diabetic pedigrees.
Q35879073	Genetics of inherited cardiomyopathies
Q37999075	Genetics of neuromuscular disorders
Q33960858	Genetics of reproductive isolation in the Drosophila simulans clade: DNA marker-assisted mapping and characterization of a hybrid-male sterility gene, Odysseus (Ods).
Q33962864	Genetics of reproductive isolation in the Drosophila simulans clade: complex epistasis underlying hybrid male sterility
Q41461943	Genetics of retinoblastoma: a study
Q77513470	Genomic organization of the canine p53 gene and its mutational status in canine mammary neoplasia
Q28181428	Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
Q35196029	Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies
Q24538901	Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
Q33965589	Genotypic stability of cold-adapted influenza virus vaccine in an efficacy clinical trial.
Q43440709	Genotyping Taenia tapeworms by single-strand conformation polymorphism of mitochondrial DNA.
Q36525873	Genotyping human papillomavirus type 16 isolates from persistently infected promiscuous individuals and cervical neoplasia patients.
Q41935403	Genotyping single nucleotide polymorphisms using different molecular beacon multiplexed within a suspended core optical fiber
Q70951139	Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients
Q37600408	Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma
Q35889809	Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
Q71010029	Germline mutations in the RB1 gene in patients with hereditary retinoblastoma
Q44847029	Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype
Q34059915	Germline p16 mutations in familial melanoma
Q46089331	Germline screening of the NF-2 gene in families with unilateral vestibular schwannoma
Q48136727	Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?
Q24564728	Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients
Q74377586	Golli-MBP gene in multiple sclerosis susceptibility
Q73616095	Growth patterns of superficially elevated neoplasia in the large intestine
Q41118743	HLA-G gene polymorphism segregation within CEPH reference families
Q35881432	Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study
Q43951451	Hb Molfetta [beta126(H4)Val-->Leu, GTG-->CTG]: a new, silent, neutral beta chain variant found in an Italian woman.
Q55478215	Hemizygous or homozygous deletion of the chromosomal region containing the p16INK4a gene is associated with amplification of the EGF receptor gene in glioblastomas.
Q41320386	HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a population association study and molecular scanning in Japanese subjects
Q45423555	Hepatitis B virus DNA in blood donors with anti-HBc as a possible indicator of active hepatitis B virus infection in Yucatan, Mexico
Q45787706	Hepatitis C viral quasispecies in hepatitis C virus carriers with normal liver enzymes and patients with type C chronic liver disease
Q78255034	Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family
Q35598211	Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia
Q28208090	Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase
Q50336461	Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain
Q34126123	Hereditary renal amyloidosis with a novel variant fibrinogen.
Q73902407	Heteroduplex mobility assay detects DNA mutations for differentiation of closely related phytoplasma strains
Q78173554	Heterogeneity of human papillomavirus DNA in a patient with Bowenoid papulosis that progressed to squamous cell carcinoma
Q42818096	Heterogeneous pattern of gene expression in cloned cell lines established from a rat transplantable osteosarcoma lung metastatic nodule
Q28769062	Heteroplasmy in the mtDNA control region of sturgeon (Acipenser, Huso and Scaphirhynchus)
Q73111097	Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
Q55037712	High frequency of p53 abnormality in laryngeal cancers of heavy smokers and its relation to human papillomavirus infection.
Q43739818	High frequency of ras mutations in forestomach and lung tumors of B6C3F1 mice exposed to 1-amino-2,4-dibromoanthraquinone for 2 years
Q55352522	High incidence of p53 gene mutation in human ovarian cancer and its association with nuclear accumulation of p53 protein and tumor DNA aneuploidy
Q35977266	High levels of Nm23 gene expression in advanced stage of thyroid carcinomas
Q35833598	High levels of p53 protein expression do not correlate with p53 gene mutations in anaplastic large cell lymphoma
Q35939515	High percentage acrylamide gels improve resolution in SSCP analysis
Q72214741	High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria
Q43040016	High prevalence of a rare hepatitis C virus in patients treated in the same hemodialysis unit: evidence for nosocomial transmission of HCV.
Q67593679	High-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations
Q81569442	High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE
Q57807288	High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method
Q77787482	Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis
Q22003954	Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
Q57948954	Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds
Q73270787	Homozygous deletions and point mutations of the Ikaros gene in gamma-ray-induced mouse thymic lymphomas
Q52035238	Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome.
Q36106284	Homozygous somatic Wt1 point mutations in sporadic unilateral Wilms tumor
Q31527864	Hormone status selects for spontaneous somatic androgen receptor variants that demonstrate specific ligand and cofactor dependent activities in autochthonous prostate cancer.
Q40643857	Hormone-nuclear receptor interactions in health and disease. Glucocorticoid resistance
Q36422379	Hot-spot mutations in the p53 gene of liver nodules induced in rats fed DL-ethionine with a methyl-deficient diet
Q40789086	How sensitive is PCR-SSCP?
Q57655718	Human adenosine A2a receptor (A2aAR) gene: systematic mutation screening in patients with schizophrenia
Q60458166	Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients
Q70588374	Human breast cancer: frequent p53 allele loss and protein overexpression
Q71816749	Human estrogen receptor messenger RNA variants in both normal and tumor breast tissues
Q44103806	Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain
Q41483086	Human familial and sporadic breast cancer: analysis of the coding regions of the 17 beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay
Q28637792	Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity
Q34323060	Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification
Q41877781	Human papillomavirus DNA and TP53 mutations in lung cancers from butchers
Q24629192	Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene
Q33504452	Human platelet antigen genotyping using a fluorescent SSCP technique with an automatic sequencer
Q24675989	Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
Q39419151	Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease
Q44267060	Hypermethylation-mediated regulation of CD44 gene expression in human neuroblastoma
Q36272068	Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II
Q43036603	Hypervariable region 1 quasispecies in hepatitis C virus genotypes 1b and 3 infected patients with normal and abnormal alanine aminotransferase levels
Q58133586	IDENTIFICATION OF THREE SNPs IN THE PORCINE MYOSTATIN GENE (MSTN)
Q37311601	IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients
Q48565876	Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Q48131289	Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene
Q29620382	Identification and characterization of the familial adenomatous polyposis coli gene
Q24318930	Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts
Q33189762	Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4
Q28211939	Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
Q40534581	Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.
Q53502809	Identification of Cystic Fibrosis Mutations
Q33973310	Identification of Mycobacterium species by multiple-fluorescence PCR-single-strand conformation polymorphism analysis of the 16S rRNA gene
Q24316011	Identification of a Mutation in the Ileal Sodium-dependent Bile Acid Transporter Gene That Abolishes Transport Activity
Q33680998	Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland
Q71302618	Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease
Q40524277	Identification of a factor IX point mutation using SSCP analysis and direct sequencing
Q24314688	Identification of a mutation in the gene causing hyperkalemic periodic paralysis
Q67468881	Identification of a new splicing mutation (406-1 G-C) in the CFTR gene
Q72679342	Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques
Q33784323	Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder
Q47719462	Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea
Q74127623	Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene
Q45880825	Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis
Q70913431	Identification of four novel splice site mutations in the ornithine transcarbamylase gene
Q28637945	Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency
Q38938143	Identification of genetic variation among St. Louis encephalitis virus isolates, using single-strand conformation polymorphism analysis
Q73270720	Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus
Q45140440	Identification of human cytomegalovirus variants by analysis of single strand conformation polymorphism and DNA sequencing of the envelope glycoprotein B gene region-distribution frequency in liver transplant recipients
Q46942853	Identification of medically important Aspergillus species by single strand conformational polymorphism (SSCP) of the PCR-amplified intergenic spacer region
Q28138689	Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency
Q28268298	Identification of mutations in Danish choroideremia families
Q33853623	Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse
Q41891294	Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
Q41248327	Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families
Q44059636	Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
Q44289162	Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
Q34384665	Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
Q48031024	Identification of point mutations in exon 2 of GDF9 gene in Kermani sheep
Q40532514	Identification of polymorphisms by genomic denaturing gradient gel electrophoresis: application to the proximal region of human chromosome 21
Q71625725	Identification of rare and novel mutations in the CFTR genes of CF patients in southern England
Q46428264	Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence
Q36622047	Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours
Q35194354	Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population
Q71636662	Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis
Q28272985	Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients
Q42673100	Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
Q73497770	Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients
Q46392919	Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy
Q41068160	Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.
Q47779992	Imbalance of G and C contents influences the sensitivity of single-strand conformation polymorphism.
Q44271237	Impact of cystic fibrosis transmembrane conductance regulator gene mutation on the occurrence of chronic pancreatitis in Japanese patients
Q72452811	Impact of the human genome project on medical practice
Q33180786	Impaired BAX protein expression in breast cancer: mutational analysis of the BAX and the p53 gene
Q32092471	Improved detection of p53 mutations in soft tissue tumors using new gel composition for automated nonradioactive analysis of single-strand conformation polymorphism
Q72104365	Improved polymerase fidelity in PCR-SSCPA
Q39721226	Improved single-strand DNA sizing accuracy in capillary electrophoresis
Q54612713	Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.
Q71610816	Inactivation of tumor suppressor genes and deregulation of the c-myc gene in urothelial cancer cell lines
Q36124554	Inconsistent phylogeographic pattern between a sperm dependent fish and its host: in situ hybridization vs dispersal.
Q33637707	Indirect modulation of dopamine D2 receptors as potential pharmacotherapy for schizophrenia: I. Adenosine agonists
Q35195076	Individual DNA identification from ancient human remains
Q36216492	Induction of Ig somatic hypermutation and class switching in a human monoclonal IgM+ IgD+ B cell line in vitro: definition of the requirements and modalities of hypermutation
Q73043555	Induction of invasive squamous cell carcinomas in the forestomach of (C3H x MSM)F1, MSM, and C3H mice by N-methyl-N-nitrosourea and mutational analysis of the H-ras and p53 genes
Q73338622	Induction of unique tandem-base change mutations in bacterial spores exposed to extreme dryness
Q51551712	Influence of 699C-->T and 1080C-->T polymorphisms of the cystathionine beta-synthase gene on plasma homocysteine levels.
Q33602396	Influence of alkyltransferase activity and chromosomal locus on mutational hotspots in Chinese hamster ovary cells
Q36081611	Infrequent CDKN2 (MTS1/p16) gene alterations in human primary breast cancer
Q28259645	Infrequent genetic alterations of the PTEN/MMAC1 gene in Japanese patients with primary cancers of the breast, lung, pancreas, kidney, and ovary
Q55208198	Infrequent mutation of p53 gene in human renal cell carcinoma detected by polymerase chain reaction single-strand conformation polymorphism analysis
Q58298619	Infrequent mutation of theWT1 gene in 77 Wilms' tumors
Q60441340	Inheritance and molecular variations of PCR-SSCP fragments in pedunculate oak (Quercus robur L.)
Q58433912	Inhibin and ovarian cancer
Q60689227	Inhibitors in the NFκB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinations
Q24304044	Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor
Q43586330	Insertional inactivation of the tomato polygalacturonase gene
Q34184582	Insulin receptor substrate-1 variants in non-insulin-dependent diabetes
Q27469554	Interferon resistance of hepatitis C virus genotype 1b: relationship to nonstructural 5A gene quasispecies mutations
Q34482930	Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma
Q73627151	Interval mapping and congenic strains for a blood pressure QTL on rat chromosome 13
Q48188173	Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
Q55081375	Intracranial germ cell tumors: detection of p53 gene mutations by single-strand conformation polymorphism analysis.
Q41122179	Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model
Q33961968	Intragenic dominant suppressors of glp-1, a gene essential for cell-signaling in Caenorhabditis elegans, support a role for cdc10/SWI6/ankyrin motifs in GLP-1 function.
Q57623629	Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis
Q45076450	Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients
Q33341180	Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma
Q40930297	Isolation and characterization of a human hepatic epithelial-like cell line (AKN-1) from a normal liver
Q24336343	Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor
Q48086662	Isolation of LUMINIDEPENDENS: a gene involved in the control of flowering time in Arabidopsis.
Q42652633	Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy.
Q33783262	Isolation, propagation and characterisation of Cryptosporidium.
Q71079677	K-ras and p53 mutations in stage I gallbladder carcinoma with an anomalous junction of the pancreaticobiliary duct
Q53402016	K-ras exon 2 point mutations in human endometrial cancer.
Q55404087	K-ras gene mutation in early ductal lesions induced in a rapid production model for pancreatic carcinomas in Syrian hamsters.
Q73591285	Karyotypic abnormalities associated with haemopoietic lineage switching are not linked with mutations to p53
Q34291582	Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Q51555780	Ki-ras and p53 mutations are early and late events, respectively, in urethane-induced pulmonary carcinogenesis in A/J mice.
Q74201975	Ki-ras oncogene and p53 tumour suppressor gene mutations in colorectal carcinomas from the European Saar-Luxembourg region are less frequent than predicted by the classic adenoma-carcinoma sequence model
Q39999643	Ki-ras point mutations and proliferation activity in biliary tract carcinomas
Q55670929	Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
Q73148111	Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect
Q77918949	Lack of BCL10 mutations in germ cell tumors and B cell lymphomas
Q54995232	Lack of allelic preference in amplification and loss of the c-myc oncogene in methylcholanthrene-induced mouse sarcomas.
Q73708843	Lack of mutation at p16INK4A gene but expression of aberrant p16INK4A RNA transcripts in human ovarian carcinoma
Q35593224	Lactoferrin Glu561Asp facilitates secondary amyloidosis in the cornea
Q35765222	Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts
Q22008707	Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
Q74099798	Leiomyosarcoma in soft tissue: examination of p53 status and cell proliferating factors in different locations
Q45966428	Length and sequence variation in the apolipoprotein B intron 20 Alu repeat.
Q36799510	Leprosy and tuberculosis: an insight-review
Q40487861	Limitations in the use of SSCP analysis
Q47181290	Limited polymorphism at major histocompatibility complex (MHC) loci in the Swedish moose A. alces
Q70624166	Linkage analysis of the glucokinase locus in familial type 2 (non-insulin-dependent) diabetic pedigrees
Q35432545	Linkage and association studies of atopy and the chromosome 11q13 region.
Q30978613	Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis
Q28201836	Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region
Q31956833	Linkage mapping of the Bra, Brb and Brg genes for rat protein phosphatase 2A 55 kDa B-regulatory subunit isotypes
Q57162293	Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region
Q57274234	Linkage of LHB and MAG to GPI on sheep Chromosome 14
Q35194749	Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred
Q67510273	Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis
Q36671598	Locoregional immunotherapy of malignant effusion from colorectal cancer using the streptococcal preparation OK-432 plus interleukin-2: induction of autologous tumor-reactive CD4+ Th1 killer lymphocytes
Q71820098	Loss of heterozygosity at 9p21 loci and mutations of the MTS1 and MTS2 genes in human lung cancers
Q42850901	Loss of p16/INK4A protein expression in non-Hodgkin's lymphomas is a frequent finding associated with tumor progression
Q74449555	Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia
Q50543611	Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Q71601023	Low frequency of mutations in the WT1 coding region in Wilms' tumor
Q81757850	MHC promoter polymorphism in grey wolves and domestic dogs
Q34606448	Major histocompatibility complex differentiation in Sacramento River chinook salmon
Q71131037	Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure
Q37137518	Mammalian genome mapping: lessons and prospects
Q38296130	Mammosomatotroph adenoma causing gigantism in an 8-year old boy: a possible pathogenetic mechanism
Q37222832	Mapping genes in the mouse using single-strand conformation polymorphism analysis of recombinant inbred strains and interspecific crosses
Q36690537	Mapping mutations in genes encoding the two large subunits of Drosophila RNA polymerase II defines domains essential for basic transcription functions and for proper expression of developmental genes
Q28145150	Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer
Q48056162	Mapping the bovine factor H gene to chromosome 16 by SSCP analysis.
Q71599194	Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type
Q55671357	Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Q73940401	Mdm2 gene amplification in gastric cancer correlation with expression of Mdm2 protein and p53 alterations
Q35977782	Mechanisms of oncogenesis in patients with familial retinoblastoma
Q34114660	Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
Q41528811	Methods for predicting carcinogenic hazards: new opportunities coming from recent developments in molecular oncology and SAR studies.
Q40415790	Methylation analysis by means of PCR SSCP: application to clonality studies
Q45115612	Micellar ordered structure effects on high-resolution CE-SSCP using Pluronic triblock copolymer blends
Q33721596	Microcosm enrichment of biphenyl-degrading microbial communities from soils and sediments.
Q73148614	Microsatellite alterations and TP53 mutations in plasma DNA of small-cell lung cancer patients: follow-up study and prognostic significance
Q55475900	Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene.
Q36506460	Microsatellite instability, MMR gene expression and proliferation kinetics in colorectal cancer with famillial predisposition
Q71863289	Mild cystic fibrosis disease in three Mexican delta‐F508/G551S compound heterozygous siblings
Q40400088	Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels.
Q34038089	Mismatch-targeted transposition of Mu: a new strategy to map genetic polymorphism
Q67482939	Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
Q28137746	Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects
Q74127710	Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome
Q36275311	Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
Q48076355	Missense mutations in the catalase-peroxidase gene, katG, are associated with isoniazid resistance in Mycobacterium tuberculosis
Q73355115	Mitochondrial DNA mutations in Japanese detected by polymerase chain reaction--restriction fragment--single strand conformation polymorphism analysis
Q44555932	Mitochondrial DNA phylogeography of lake cisco (Coregonus artedi): evidence supporting extensive secondary contacts between two glacial races
Q47840189	Mitochondrial DNA polymorphism within and among species of Capillaria sensu lato from Australian marsupials and rodents
Q40722575	Mitochondrial DNA polymorphisms in bipolar disorder
Q28273223	Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations: detection of new ALDH2 alleles
Q45997607	Mitochondrial and nuclear DNA sequence variability among populations of rainbow trout (Oncorhynchus mykiss).
Q39845126	Mitochondrial and nuclear gene mutations in the type 2 diabetes patients of Coimbatore population
Q46157086	Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness
Q37003276	Molecular Genetics of von Recklinghausen Neurofibromatosis
Q36242500	Molecular analysis of Bacillus subtilis ada mutants deficient in the adaptive response to simple alkylating agents
Q48170209	Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
Q45079005	Molecular analysis of a neurovirulent herpes simplex virus type 2 strain with reduced thymidine kinase activity
Q24676492	Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus
Q62659267	Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox
Q33595110	Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
Q42950899	Molecular analysis of glucose-6-phosphate dehydrogenase variants in the Solomon Islands.
Q67482114	Molecular analysis of neurofibromatosis type 1 mutations
Q33907184	Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism
Q44360255	Molecular analysis of the androgen receptor in ten prostate cancer specimens obtained before and after androgen ablation
Q38301968	Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera
Q37361613	Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption
Q74719142	Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis
Q24803321	Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
Q50948227	Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies
Q35196328	Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia
Q28243614	Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families
Q33216449	Molecular approaches to the assessment of biodiversity in aquatic microbial communities.
Q43919754	Molecular assessment of p53 abnormalities at the invasive front of oral squamous cell carcinomas
Q67522978	Molecular basis for nonphenylketonuria hyperphenylalaninemia
Q28241993	Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene
Q42950985	Molecular basis of spinal muscular atrophy in Chinese.
Q35367195	Molecular biology in the diagnosis and prognosis of solid and lymphoid tumors
Q41131665	Molecular biology of pediatric gliomas
Q71602190	Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene
Q39089477	Molecular characterization of beta-thalassemia in Egyptians
Q35644390	Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor
Q74424117	Molecular characterization of p53 mutations in primary and secondary liver tumors: diagnostic and therapeutic perspectives
Q35773944	Molecular characterization of primary mediastinal B cell lymphoma
Q34330357	Molecular characterization of the androgen receptor gene in boys with hypospadias
Q54199522	Molecular characterization of thirteen gyrA mutations conferring nalidixic acid resistance in Bacillus subtilis.
Q24317666	Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains
Q36749024	Molecular cloning of BRCA1: a gene for early onset familial breast and ovarian cancer
Q30195169	Molecular defects associated with the acute phase CML.
Q33975793	Molecular detection of antimicrobial resistance
Q34606361	Molecular detection of gene mutations and methylation abnormalities: applications in solid tumor diagnosis
Q40842301	Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband
Q41648222	Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex
Q24679670	Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease
Q34516018	Molecular diagnostics in preimplantation genetic diagnosis
Q44338449	Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
Q54100578	Molecular evolution of acute myeloid leukaemia in relapse: unstable N-ras and FLT3 genes compared with p53 gene.
Q42599172	Molecular genetic analysis of the von Recklinghausen neurofibromatosis (NF1) gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method
Q35194652	Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene
Q36067195	Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview
Q33722441	Molecular genetic characteristics of lung cancer--useful as real' tumor markers?
Q50092603	Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families
Q52574791	Molecular genetic mapping of three X-linked avirulence genes, vH6, vH9 and vH13, in the Hessian fly.
Q41019667	Molecular genetics and in vitro sensitivity of a new human cell line, KKP, from a gastric adenocarcinoma.
Q37383913	Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Q24619385	Molecular genetics of steroid 5 alpha-reductase 2 deficiency
Q28207758	Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
Q73363380	Molecular heterogeneity of B-lineage diffuse large cell lymphoma
Q68079335	Molecular heterogeneity underlying the G6PD Mediterranean phenotype
Q36525320	Molecular identification of bacteria by fluorescence-based PCR-single-strand conformation polymorphism analysis of the 16S rRNA gene
Q39379850	Molecular mapping of genomic regions harbouring QTLs for root and yield traits in sorghum (Sorghum bicolor L. Moench).
Q33515886	Molecular markers from a BAC contig spanning the Rdr1 locus: a tool for marker-assisted selection in roses
Q37241878	Molecular markers reveal that population structure of the human pathogen Candida albicans exhibits both clonality and recombination
Q39821736	Molecular mechanisms of isoniazid resistance in Mycobacterium tuberculosis and Mycobacterium bovis.
Q36464319	Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma
Q53430113	Molecular oncology: diagnostic and prognostic assessment of human cancers in the clinical laboratory.
Q35121345	Molecular phylogenetics of Amorpha (Fabaceae): an evaluation of monophyly, species relationships, and polyploid origins
Q34434748	Molecular phylogenetics of subtribe Aeridinae (Orchidaceae): insights from plastid matK and nuclear ribosomal ITS sequences
Q68027186	Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population
Q72375204	Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus
Q54572297	Molecular spectrum of mutations induced by 5-hydroxymethyl-2'-deoxyuridine in (CHO)-PL61 cells.
Q36526674	Molecular subtyping of human T-cell lymphotropic virus type 2 by single-strand conformation polymorphism analysis. Retrovirus Epidemiology Donor Study Group.
Q56986084	Molecular tools—advances, opportunities and prospects
Q48377618	Monitoring of activity dynamics of an anaerobic digester bacterial community using 16S rRNA polymerase chain reaction--single-strand conformation polymorphism analysis
Q47851124	Monoalleleic transcription of the insulin-like growth factor-II gene (Igf2) in chick embryos
Q35675696	Mouse chromosome 1.
Q44423379	Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype
Q24676213	Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency
Q24672455	Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene
Q71675629	Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population
Q45436855	Mucosal immunization of sheep with a Maedi-Visna virus (MVV) env DNA vaccine protects against early MVV productive infection.
Q33951443	Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene
Q34843882	Multiple genetic alterations in human carcinogenesis
Q35643704	Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).
Q38469522	Multiplex PCR/LDR for detection of K-ras mutations in primary colon tumors
Q55243800	Multiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers.
Q36537164	Multiplex, fluorescent single-strand conformation polymorphism using stepped polymerase chain reaction primers.
Q70648574	Mutagenesis after therapy for Hodgkin's disease
Q36025880	Mutant insulin receptors in syndromes of insulin resistance
Q50335676	Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Q73474551	Mutation analysis of BRCA1, TP53, and KRAS2 in ovarian and related pelvic tumors
Q77694780	Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation
Q24801244	Mutation analysis of genes that control the G1/S cell cycle in melanoma: TP53, CDKN1A, CDKN2A, and CDKN2B
Q73180962	Mutation analysis of the EMX2 gene in Kallmann's syndrome
Q39563836	Mutation analysis of the p53, APC, and p16 genes in the Barrett's oesophagus, dysplasia, and adenocarcinoma
Q53670536	Mutation and homozygous deletion analyses of genes that control the G1/S transition of the cell cycle in skin melanoma: p53, p21, p16 and p15.
Q44432296	Mutation detection in rice waxy mutants by PCR-RF-SSCP.
Q33330469	Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.
Q40407340	Mutation hot spots in the canine herpesvirus thymidine kinase gene
Q24323153	Mutation in GLI3 in postaxial polydactyly type A
Q24308861	Mutation in the calcium-binding domain of the mitochondrial glycerophosphate dehydrogenase gene in a family of diabetic subjects
Q42163837	Mutation of bcl-x gene in non-Hodgkin's lymphoma
Q34314263	Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Q24672557	Mutation of the PAX6 gene in patients with autosomal dominant keratitis
Q73794986	Mutation of the RB1 gene caused unilateral retinoblastoma in early Age
Q36136580	Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ
Q77076612	Mutation of the p51/p63 gene is associated with blastic crisis in chronic myelogenous leukemia
Q54671239	Mutation of the p53 tumor suppressor gene in transitional cell carcinoma of the urinary tract in Taiwan.
Q38131511	Mutation scanning analysis of genetic variation within and among Echinococcus species: implications and future prospects
Q41703023	Mutation scanning methods for the analysis of parasite genes
Q33592491	Mutation screening based on the mechanical properties of DNA molecules tethered to a solid surface
Q72286537	Mutation screening by a combination of biotin-SSCP and direct sequencing
Q24560214	Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
Q77740225	Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1
Q41695045	Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Q77448858	Mutational analysis of N-RAS and GAP-related domain of the neurofibromatosis type 1 gene in chronic myelogenous leukemia
Q34346143	Mutational analysis of SRY in XY females
Q34240553	Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal
Q38362311	Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability
Q47957541	Mutational analysis of p73 and p53 in human cancer cell lines
Q28290738	Mutational analysis of patients with X-linked adrenoleukodystrophy
Q35194454	Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.
Q30502691	Mutational analysis of patients with neurofibromatosis 2
Q40491454	Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients
Q40941257	Mutational analysis of three tumor suppressor genes in two models of rat hepatocarcinogenesis.
Q54412439	Mutational and methylation analysis of the cyclin-dependent kinase 4 inhibitor (p16INK4A) gene in chronic lymphocytic leukemia.
Q24308088	Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
Q28188807	Mutations and aberrant DNA methylation of the PROX1 gene in hematologic malignancies
Q38470403	Mutations in BRCA1 from fixed, paraffin-embedded tissue can be artifacts of preservation
Q28131805	Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Q28210343	Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
Q34111454	Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes
Q28062241	Mutations in pncA, a gene encoding pyrazinamidase/nicotinamidase, cause resistance to the antituberculous drug pyrazinamide in tubercle bacillus
Q72640314	Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
Q24681704	Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
Q34301524	Mutations in the Norrie disease gene
Q33681626	Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Q28139223	Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
Q34337855	Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
Q74592160	Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
Q28118889	Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
Q45108302	Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis
Q28252073	Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
Q24320564	Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
Q73499341	Mutations in the p53 tumor suppressor gene in colorectal cancer in Taiwan
Q44439696	Mutations in the p53 tumor suppressor gene in human cutaneous squamous cell carcinomas
Q34185348	Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.
Q55670933	Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Q28236562	Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
Q33595072	Mutations of the androgen receptor gene identified in perineal hypospadias
Q24336457	Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
Q40771480	Mutations of the p53 gene in B-cell lymphoma
Q58454741	Mutations of the p53 tumor suppressor gene as clonal marker for multiple primary lung cancers
Q35889251	Mutations participating in interallelic complementation in propionic acidemia
Q34245527	Mutations within the tumour suppressor gene p53 are not confined to a late event in prostate cancer progression. a review of the evidence.
Q40594604	N- and K-ras oncogenes in plasma cell dyscrasias.
Q34453867	NAGLU mutations underlying Sanfilippo syndrome type B.
Q72326131	NF1 gene mutation and acute myelogenous leukaemia
Q34756505	NOTCH1 mutations influence survival in chronic lymphocytic leukemia patients
Q33766988	Natural diversity of potato (Solanum tuberosum) invertases
Q37364811	Naturally occurring mutations in the human 5-lipoxygenase gene promoter that modify transcription factor binding and reporter gene transcription
Q53419192	Needle-in-a-haystack detection and identification of base substitution mutations in human tissues.
Q35832722	Neoplasia of the ampulla of Vater. Ki-ras and p53 mutations
Q41715287	Neural tube and craniofacial defects with special emphasis on folate pathway genes.
Q47069421	Neuroglia and pioneer neurons express UNC-6 to provide global and local netrin cues for guiding migrations in C. elegans.
Q44429509	Neutral versus adaptive genetic variation in parasite resistance: importance of major histocompatibility complex supertypes in a free-ranging primate
Q43868516	New dopamine D2 receptor polymorphisms in rats and association with apomorphine-induced stereotypies
Q24316811	Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
Q55065837	Nm23-H1 mutation in neuroblastoma.
Q71640739	No TP53 mutations in neuroblastomas detected by PCR-SSCP analysis
Q71940024	No association between the neuroleptic malignant syndrome and mutations in the RYR1 gene associated malignant hyperthermia
Q48093216	No complementation between TP53 or RB-1 and v-src in astrocytomas of GFAP-v-src transgenic mice
Q41660609	Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene
Q42985458	Non-isotopic detection of hepatitis C virus quasispecies by single strand conformation polymorphism
Q35805541	Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria
Q72131315	Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation
Q40504403	Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'PhastSystem'.
Q40411447	Nonisotopic SSCP and competitive PCR for DNA quantification: p53 in breast cancer cells
Q71655066	Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis
Q35000145	Nonisotopic discontinuous phase single strand conformation polymorphism (DP-SSCP): genetic profiling of D-loop of human mitochondrial (mt) DNA.
Q35192944	Nonradioactive method to study genetic profiles of natural bacterial communities by PCR-single-strand-conformation polymorphism.
Q27469739	Nonrandom distribution of hepatitis C virus quasispecies in plasma and peripheral blood mononuclear cell subsets
Q54960766	Nonsense mutation at codon 63 of the BRCA1 gene in Japanese breast cancer patients.
Q28306503	Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
Q38312835	Nonsense mutation in the homeobox region of the aniridia gene
Q24563499	Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease
Q72661956	Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese
Q38314625	Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours
Q28207634	Novel Tay-Sachs disease mutations from China
Q77647381	Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism
Q33679861	Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
Q47836976	Novel fimbrial subunit genes of Dichelobacter nodosus: recombination in vivo or in vitro?
Q74127682	Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia
Q43548783	Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity
Q35882184	Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Q34385714	Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
Q35112703	Novel mutation in 16S rRNA associated with streptomycin dependence in Mycobacterium tuberculosis
Q35452187	Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
Q78409347	Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease
Q28292421	Novel mutations and polymorphisms in the Fanconi anemia group C gene
Q24796354	Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer
Q48754471	Novel polymorphism in the promoter region of the tumor necrosis factor alpha gene: No association with narcolepsy
Q65001099	Novel trinucleotide deletion in Fabry's disease.
Q38483058	Nuclear accumulation of p53 protein correlates with mutations in the p53 gene on archival paraffin-embedded tissues of human breast cancer
Q24538852	OA1 mutations and deletions in X-linked ocular albinism
Q45735906	Oligoclonal expansion of alphabeta T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis with abnormal karyotypes
Q34573429	Oligomerization of KCC2 correlates with development of inhibitory neurotransmission.
Q35204292	Oncogenes in Melanomas
Q41665743	Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene
Q30333986	Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype
Q43602311	One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa
Q43719380	Optimization of single-stranded conformation polymorphism (SSCP) analysis for screening for the estrogen receptor-alpha gene polymorphism P325P.
Q53484458	Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.
Q47891005	Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (cGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-beagle dogs
Q30350457	Origins of host-specific populations of the blast pathogen Magnaporthe oryzae in crop domestication with subsequent expansion of pandemic clones on rice and weeds of rice.
Q28610143	Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
Q48003734	Overexpression of p53 protein in interstitial lung diseases
Q61963036	Overlap of direct and indirect alloreactive T-cell repertoires when MHC polymorphism is limited to the peptide binding groove
Q73043584	P53 gene mutations in osteosarcomas in the dog
Q36526568	PCR and single-strand conformational polymorphism for recognition of medically important opportunistic fungi.
Q36307369	PCR in the analysis of mutations in mitochondrial DNA.
Q46370253	PCR in the diagnosis of phenylketonuria
Q52697252	PCR-SSCP and sequence analysis of three Odontotermes spp. (order: isoptera; family: termitidae) on the basis of partial 16SrRNA gene.
Q34592500	PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example.
Q37064949	PCR-SSCP: a method for the molecular analysis of genetic diseases
Q37144797	PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA
Q44141774	PCR-based methods for identification of species of the Anopheles minimus group: allele-specific amplification and single-strand conformation polymorphism
Q33717082	PCR-based technology in veterinary parasitology.
Q67486994	PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics
Q44702044	PTEN immunohistochemical expression is suppressed in G1 endometrioid adenocarcinoma of the uterine corpus
Q55475660	PTEN mutation analysis in two genetic subtypes of high-grade oligodendroglial tumors. PTEN is only occasionally mutated in one of the two genetic subtypes.
Q28250937	PTEN1 is frequently mutated in primary endometrial carcinomas
Q24672878	Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
Q35832827	Pancreatic adenocarcinomas frequently show p53 gene mutations.
Q48869592	Panencephalitic Creutzfeldt-Jakob disease in a Chinese family. Unusual presentation with PrP codon 210 mutation and identification by PCR-SSCP.
Q46064762	Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature
Q41330027	Patched-one or smoothened gene mutations are infrequent in chondrosarcoma
Q41965413	Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability
Q40549931	Perspectives on molecular assays for measuring mutation in humans and rodents
Q33623221	Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome
Q73764562	Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
Q36594447	Phylogenetic assessment of length variation at a microsatellite locus
Q60310650	Phylogeography and conservation of the populations of Zootoca vivipara carniolica
Q34298812	Phytophthora xserendipita sp. nov. and P. xpelgrandis, two destructive pathogens generated by natural hybridization
Q74170843	Pilot studies on the p53 gene in nipple aspirate fluid from patients with breast cancer
Q35889161	Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers
Q71990290	Point Mutations in the Thyrotropin Receptor in Human Thyroid Tumors
Q71842057	Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis
Q34336251	Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
Q52192748	Point mutations in human GLI3 cause Greig syndrome.
Q29618564	PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
Q87081713	Polymerase chain Reaction in molecular biotechnology; appropriate technology for developing countries
Q41137466	Polymerase chain reaction and in situ hybridization: applications in toxicological pathology
Q72428131	Polymerase chain reaction-single strand conformation polymorphism analysis of the p53 gene in paraffin-embedded surgical material from human renal cell carcinomas
Q60689261	Polymerase chain reaction—single strand conformation polymorphism or how to detect reliably and efficiently each sequence variation in many samples and many genes
Q41135059	Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions
Q68224970	Polymorphism at codon 72 of the p53 gene in human acute myelogenous leukemia
Q41011748	Polymorphism in two genes for B2 high sulfur proteins of wool
Q28236328	Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles
Q38307683	Polymorphisms in the 3' untranslated region of the I kappa B/MAD-3 (NFKBI) gene located on chromosome 14.
Q54174859	Polymorphisms of the human hexokinase II gene: lack of association with NIDDM and insulin resistance.
Q45753727	Polymorphisms of thymidine kinase gene in herpes simplex virus type 1: analysis of clinical isolates from herpetic keratitis patients and laboratory strains
Q45939121	Polymorphisms within promoter of Japanese flounder (Paralichthys olivaceus) ovary cytochrome P450-c19 (CYP19a) gene associated with reproductive traits.
Q33884711	Polymorphysims of CYP17-I Gene in the Exons Were Associated with the Reproductive Endocrine of Japanese Flounder (Paralichthys olivaceus).
Q40241258	Population analyses of Amblyomma maculatum ticks and Rickettsia parkeri using single-strand conformation polymorphism
Q29147416	Positional cloning of the Fanconi anaemia group A gene
Q41022417	Positional cloning of the HYP gene: a review
Q63916600	Positive association in the absence of linkage suggests a minor role for the glucokinase gene in the pathogenesis of Type 2 (non-insulin-dependent) diabetes mellitus amongst South Indians
Q42754709	Post-thymic T cell lymphomas frequently overexpress p53 protein but infrequently exhibit p53 gene mutations
Q40937874	Practical methods of mutation detection
Q44720890	Predominant K-ras codon 12 G --> A transition in chemically induced lung neoplasms in B6C3F1 mice
Q72075878	Prenatal diagnosis for cystic fibrosis using SSCP analysis
Q73403226	Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles
Q53178823	Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
Q53453280	Primary malignant lymphoma of the brain: demonstration of frequent p16 and p15 gene deletions.
Q34174854	Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Q43829268	Production of cloned goats after nuclear transfer using adult somatic cells
Q73027864	Prognostic significance of p53 abnormalities in colorectal carcinoma detected by PCR-SSCP and immunohistochemical analysis
Q36135501	Prognostic significance of p53 overexpression and mutation in colorectal adenocarcinomas
Q24677069	Progressive ataxia due to a missense mutation in a calcium-channel gene
Q52020940	Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Q48667589	Proteolipid protein is necessary in peripheral as well as central myelin
Q40505519	Protocols for an improved detection of point mutations by SSCP
Q28237330	Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
Q73589367	Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia))
Q58416515	Pulsed-field polyacrylamide gel electrophoresis: Basic phenomena and applications
Q80231250	QSNPlite, a software system for quantitative analysis of SNPs based on capillary array SSCP analysis
Q61950626	Quantitative trait loci and underlying candidate genes controlling agronomical and fruit quality traits in octoploid strawberry (Fragaria × ananassa)
Q42613547	Quasispecies composition and phylogenetic analysis of feline coronaviruses (FCoVs) in naturally infected cats
Q42982877	Quasispecies nature of hepatitis C virus and response to alpha interferon: significance as a predictor of direct response to interferon
Q42994446	Quasispecies of hepatitis C virus in serum and in three different parts of the liver of patients with chronic hepatitis
Q74351248	RAPD analysis of Astragalus medicines marketed in Taiwan
Q34347939	RNase cleavage-based methods for mutation/SNP detection, past and present
Q35022695	Radiation hybrid mapping of the two highly homologous human-variant pMCHL genes by PCR-SSCP.
Q71120875	Radiation-induced structural modifications in dsDNA analysed by FT-Raman spectroscopy
Q47584473	Radioresistance in Oral Squamous Cell Carcinoma With p 53 DNA Contact Mutation
Q42689515	Rapid and efficient construction of yeast artificial chromosome contigs in the mouse genome with interspersed repetitive sequence PCR (IRS-PCR): generation of a 5-cM, > 5 megabase contig on mouse chromosome 1.
Q42981289	Rapid and sensitive genotyping of hepatitis C virus by single-strand conformation polymorphism.
Q72073954	Rapid and sensitive molecular subtyping of microorganisms in clinical specimens
Q38471258	Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
Q72009320	Rapid detection of hemoglobin variants by mutagenically separate polymerase chain reaction (MS-PCR)
Q35690423	Rapid detection of point mutations conferring resistance to fluoroquinolone in gyrA of Helicobacter pylori by allele-specific PCR
Q40011583	Rapid detection of point mutations of the Neisseria gonorrhoeae gyrA gene associated with decreased susceptibilities to quinolones
Q41642180	Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis
Q36542489	Rapid differentiation of bovine and human tubercle bacilli based on a characteristic mutation in the bovine pyrazinamidase gene
Q36672624	Rapid differentiation of phenotypically similar yeast species by single-strand conformation polymorphism analysis of ribosomal DNA.
Q46610950	Rapid direct diagnosis of mumps meningitis by ELISA capture technique
Q33968130	Rapid evolution of a coadapted gene complex: evidence from the Segregation Distorter (SD) system of meiotic drive in Drosophila melanogaster.
Q37096086	Rapid identification of bacteria by PCR-single-strand conformation polymorphism
Q39455127	Rapid identification of bacteria from positive blood cultures by fluorescence-based PCR-single-strand conformation polymorphism analysis of the 16S rRNA gene
Q67993235	Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms
Q67571368	Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants
Q53789713	Rapid polymerase chain reaction (PCR)-single-stranded conformational polymorphism (SSCP) screening method for the identification of Aspergillus section Nigri species by the detection of calmodulin nucleotide variations.
Q53463158	Rare occurrence of p53 and ras gene mutations in preneoplastic and neoplastic mouse endometrial lesions induced by N-methyl-N-nitrosourea and 17β-estradiol
Q37032121	Rat p53 gene mutations in primary Zymbal gland tumors induced by 2-amino-3-methylimidazo[4,5-f]quinoline, a food mutagen
Q74618478	Recent enhancements in SSCP
Q28118750	Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
Q52181381	Recombinogenic targeting: a new approach to genomic analysis--a review.
Q48198402	Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
Q30682000	Redescription of Zoniolaimus mawsonae Beveridge, 1983 (Nematoda: Strongyloidea) and the description of Z. latebrosus n. sp. from the red kangaroo Macropus rufus (Marsupialia: Macropodidae) based on morphological and molecular data
Q45234642	Reduced p53 dosage associated with mammary tumor metastases in C3(1)/TAG transgenic mice
Q42158464	Regional evolution of venom-gland phospholipase A2 isoenzymes of Trimeresurus flavoviridis snakes in the southwestern islands of Japan.
Q74301619	Relationship of p53 molecular abnormalities with flow cytometry and growth factor receptor content in lung cancer
Q42992257	Relationship of the genomic complexity of hepatitis C virus with liver disease severity and response to interferon in patients with chronic HCV genotype 1b infection [correction of interferon].
Q44541785	Relative mRNA expression of the lactate dehydrogenase A and B subunits as determined by simultaneous amplification and single strand conformation polymorphism. Relation with subunit enzyme activity
Q73943118	Resolution of cis-trans ambiguities between HLA-DRB1 alleles using single-strand conformation polymorphisms and sequencing
Q35196821	Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
Q33930698	Restricted and conserved T-cell repertoires involved in allorecognition of class II major histocompatibility complex.
Q34155586	Restricted genetic variation in populations of Achatina (Lissachatina) fulica outside of East Africa and the Indian Ocean Islands points to the Indian Ocean Islands as the earliest known common source
Q36546442	Restriction Fragment Length Polymorphism in Plants and Its Implications
Q33595391	Retinoblastoma: a possible link with low level radiation.
Q41038949	Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis
Q57679687	Reviews of Science for Science Librarians: PCR: The Discovery that Powered the Genomic Revolution in Modern Science
Q37309587	Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four
Q34357367	Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Q74127933	Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level
Q38974421	Root-knot nematode (Meloidogyne spp.) Me resistance genes in pepper (Capsicum annuum L.) are clustered on the P9 chromosome.
Q35806503	SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes
Q72387762	SRVX, a sex reversing locus in Xp21.2-->p22.11
Q47888365	SSCP analysis at the bovine CSN3 locus discriminates six alleles corresponding to known protein variants (A, B, C, E, F, G) and three new DNA polymorphisms (H, I, A1).
Q52514069	SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
Q47585229	SSCP is not so difficult: the application and utility of single-stranded conformation polymorphism in evolutionary biology and molecular ecology
Q37597815	Screen for MAOA mutations in target human groups
Q48783011	Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
Q70484971	Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE)
Q58278033	Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations
Q39626360	Screening for different genotypes of Echinococcus granulosus within China and Argentina by single-strand conformation polymorphism (SSCP) analysis.
Q72333208	Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia
Q35060488	Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP
Q28207658	Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency
Q38312923	Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism method.
Q59526247	Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method
Q72231133	Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop
Q47367419	Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
Q71602186	Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes
Q73111107	Screening of the 3' two-thirds of the coding area of the apo B gene in Finnish hypercholesterolemic patients report of six new genetic variants
Q34324968	Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
Q57919797	Segregation analysis of NIDDM in Caucasian families
Q33681681	Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata
Q42980251	Selection of hepatitis C virus quasispecies during interferon treatment
Q47691111	Sensitive and selective detection of the p53 gene based on a triple-helix magnetic probe coupled to a fluorescent liposome hybridization assembly via rolling circle amplification.
Q71297266	Sensitive detection of loss of heterozygosity in the TP53 gene in pancreatic adenocarcinoma by fluorescence-based single-strand conformation polymorphism analysis using blunt-end DNA fragments
Q39723176	Sensitive detection of p53 gene mutations by a 'mutant enriched' PCR-SSCP technique
Q55153791	Sensitive detection of p53 gene mutations in esophageal endoscopic biopsy specimens by cell sorting combined with polymerase chain reaction single-strand conformation polymorphism analysis.
Q36244229	Sensitive quantitative assay for point mutations in the rat H-ras gene based on single nucleotide primer extension
Q40536748	Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations
Q53323583	Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients.
Q42996468	Sequence diversity in the 5'-UTR region of GB virus C/hepatitis G virus assessed using sequencing, heteroduplex mobility analysis and single-strand conformation polymorphism
Q40569384	Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease
Q33896318	Sequence polymorphisms in the apolipoprotein (a) gene. Evidence for dissociation between apolipoprotein(a) size and plasma lipoprotein(a) levels.
Q34133903	Sequence variants in the FcepsilonRI alpha chain gene
Q35030947	Sequence variation in the human T-cell receptor loci
Q33969145	Sequence variations in the bovine growth hormone gene characterized by single-strand conformation polymorphism (SSCP) analysis and their association with milk production traits in Holsteins.
Q33746998	Sequence-based analysis of enzymatically amplified DNA fragments by mutation detection techniques.
Q35083576	Sequence-specific "gene signatures" can be obtained by PCR with single specific primers at low stringency
Q48193610	Sequencing and analysis of genomic fragments from the NF1 locus
Q24671692	Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis
Q41824743	Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Q33593904	Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation
Q40474913	Sheep linkage mapping: RFLP markers for comparative mapping studies
Q61981593	Short-term dynamics of circulating T cell receptor V beta repertoire in relapsing–remitting MS
Q73024051	Signals sustaining human immunoglobulin V gene hypermutation in isolated germinal centre B cells
Q74009537	Simple and rapid determination of the acetaldehyde dehydrogenase (ALDH2) genotypes by nonradioactive single-strand conformation polymorphism analysis
Q33972261	Simple method for determining biovar and serovar types of Ureaplasma urealyticum clinical isolates using PCR-single-strand conformation polymorphism analysis
Q46072694	Simultaneous Profiling of DNA Mutation and Methylation by Melting Analysis Using Magnetoresistive Biosensor Array
Q41461067	Simultaneous multianalyte nucleic acid detection for gastrointestinal bacterial pathogens using GeneSTAR technology.
Q36787268	Single strand conformational polymorphism using capillary electrophoresis with two-dye laser-induced fluorescence detection
Q31883206	Single strand mRNA differential display (SSDD) applied to the identification of serine/threonine phosphatases regulated during cerebellar development.
Q54640576	Single-strand conformation polymorphism (SSCP) analysis as a new diagnostic tool to distinguish dorsal-spined larvae of the Elaphostrongylinae (Nematoda: Protostrongylidae) from cervids.
Q40800940	Single-strand conformation polymorphism (SSCP) analysis as a tool for genetic mapping
Q74462510	Single-strand conformation polymorphism (SSCP) analysis as a tool for viroid characterisation
Q57263960	Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients
Q49168264	Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
Q45873519	Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.
Q56958769	Single-strand conformation polymorphism (SSCP) for the analysis of genetic variation
Q72209447	Single-strand conformation polymorphism analysis by perpendicular temperature-gradient gel electrophoresis
Q40695950	Single-strand conformation polymorphism analysis of genetic variation in Labiostrongylus longispicularis from kangaroos
Q72110055	Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism
Q40564299	Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria
Q72771913	Single-strand conformational polymorphism (SSCP) mapping of the mouse genome: integration of the SSCP, microsatellite, and gene maps of mouse chromosome 1
Q61769053	Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency
Q68184093	Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus
Q44895136	Single-strand-conformation polymorphism of ribosomal DNA for rapid species differentiation in genus Phytophthora
Q35066195	Single-strand-specific nucleases
Q58277988	Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations
Q24670079	Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals
Q50527912	Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
Q54417578	Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
Q24293243	Somatic mutations in the neurofibromatosis 1 gene in human tumors
Q48379390	Somatic mutations of the PTEN/MMAC1 gene in fifteen Japanese endometrial cancers: evidence for inactivation of both alleles
Q24309083	Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
Q38877806	Speciation and the establishment of zonation in an intertidal barnacle: specific settlement vs. selection
Q27824790	Specific p53 mutations predict poor prognosis in oral squamous cell carcinoma
Q28289937	Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
Q37643452	Spectrum of mutations in aspartylglucosaminuria
Q35882216	Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome
Q34389747	Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences
Q36140990	Sporadic CDKN2 (MTS1/p16ink4) gene alterations in human ovarian tumours
Q38488104	Stability of K-ras mutations throughout the natural history of human colorectal cancer
Q28295187	Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein
Q40953874	Strategies and applications of DNA level diagnosis in genetic diseases: past experiences and future directions.
Q36904012	Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer
Q81209789	Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods
Q53484480	Structural organization of BCR-ABL gene in chronic phase and blast transformation in chronic myeloid leukemia patients.
Q44116496	Structure and expression of a nonpolymorphic rabbit class II gene with homology to HLA-DOB.
Q34476201	Structure and mutation analysis of the glycogen storage disease type 1b gene.
Q28185968	Structure of the human acyl-CoA:cholesterol acyltransferase-2 (ACAT-2) gene and its relation to dyslipidemia
Q72078860	Structure-Specific Endonucleolytic Cleavage of Nucleic Acids by Eubacterial DNA Polymerases
Q35787871	Study of p53 in elderly patients with myelodysplastic syndromes by immunohistochemistry and DNA analysis
Q57655706	Systematic screening for mutations in the human serotonin 1F receptor gene in patients with bipolar affective disorder and schizophrenia
Q71131045	Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia
Q28298778	Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders
Q48116958	Systematic study of human alpha beta T cell receptor V segments shows allelic variations resulting in a large number of distinct T cell receptor haplotypes.
Q52189928	T cell receptor repertoire diversity and clonal expansion in human neonates.
Q44057427	T-peak to T-end interval may be a better predictor of high-risk patients with hypertrophic cardiomyopathy associated with a cardiac troponin I mutation than QT dispersion.
Q24563878	TAP1 alleles in insulin-dependent diabetes mellitus: a newly defined centromeric boundary of disease susceptibility
Q22010020	TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM
Q38481857	TP53 gene mutations in gastric carcinoma detected by polymerase chain reaction/single-strand conformation polymorphism analysis of archival material.
Q44124091	TP53 mutations in breast cancer tumors of patients from Rio de Janeiro, Brazil: association with risk factors and tumor characteristics
Q53442519	TP53 mutations in stage I gallbladder carcinoma with special attention to growth patterns.
Q28209335	TSLC1 is a tumor-suppressor gene in human non-small-cell lung cancer
Q35194587	Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
Q35040891	Techniques patents for SNP genotyping
Q41510242	Telomere change and loss of heterozygosity of mouse primary tumors and cell lines
Q30951967	Temperature switch PCR (TSP): Robust assay design for reliable amplification and genotyping of SNPs.
Q56827528	Tetrodotoxin Poisoning
Q54665382	The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.
Q44930023	The APCI1307K allele and breast cancer risk
Q28288396	The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
Q24540170	The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma
Q28205749	The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
Q35782290	The MDM2 oncoprotein is overexpressed in rhabdomyosarcoma cell lines and stabilizes wild-type p53 protein.
Q28210134	The MEN1 gene and associated diseases: an update
Q37336557	The NF1 translocation breakpoint region
Q34207557	The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain
Q34348941	The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
Q33967963	The broom of the sorcerer's apprentice: the fine structure of a chromosomal region causing reproductive isolation between two sibling species of Drosophila.
Q52279693	The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users.
Q40381238	The clinical significance of p53 aberrations in human tumours
Q71565004	The clinical significance of p53 gene mutation in hepatocellular carcinomas from Japan
Q33677641	The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia
Q34438326	The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Q37385249	The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis
Q55042036	The effects of allospecific mitochondrial genome on the fitness of northern redbelly dace (Chrosomus eos).
Q53329562	The effects of p53 status and human papillomavirus infection on the clinical outcome of patients with stage IIIB cervical carcinoma treated with radiation therapy alone.
Q38312744	The estrogen receptor from a tamoxifen stimulated MCF-7 tumor variant contains a point mutation in the ligand binding domain
Q35604030	The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
Q72649493	The first genetic marker detected in the promoter region of the thyroid peroxidase gene by single-strand conformational polymorphism analysis
Q36691152	The fission yeast ferric reductase gene frp1+ is required for ferric iron uptake and encodes a protein that is homologous to the gp91-phox subunit of the human NADPH phagocyte oxidoreductase.
Q28250118	The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32
Q24605122	The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene
Q35196979	The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
Q34355151	The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
Q71936826	The genes coding for alpha and beta catenin (Catna1 and Catnb) and plakoglobin (Jup) map to mouse chromosomes 18, 9, and 11, respectively
Q34146408	The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study
Q37322703	The genetics of complex ophthalmic disorders
Q40504719	The genetics of human cancer: implications for ecotoxicology
Q40519626	The genetics of non-insulin-dependent diabetes mellitus.
Q34309614	The genomic structure of the human UBE1L gene.
Q57321065	The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3
Q68017993	The human genetic map
Q33705845	The human genome project and the future of diagnostics, treatment, and prevention
Q33555593	The ins and outs of DNA fingerprinting the infectious fungi
Q28243577	The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada
Q24316923	The molecular basis of Sanfilippo syndrome type B
Q40694887	The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c.
Q24673176	The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
Q42662222	The molecular defect underlying canine fucosidosis.
Q52085303	The murine Cyp1a1 gene is expressed in a restricted spatial and temporal pattern during embryonic development.
Q24680298	The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
Q90075338	The neurofibromatosis gene in human pituitary adenomas
Q40808817	The p53 tumor suppressor gene frequently is altered in gynecologic cancers
Q42478178	The patched/hedgehog/smoothened signalling pathway in human breast cancer: no evidence for H133Y SHH, PTCH and SMO mutations
Q48886136	The paternal methylation imprint of the mouse H19 locus is acquired in the gonocyte stage during foetal testis development
Q37737988	The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome
Q41432469	The polymerase chain reaction (PCR) in the routine genetic characterization of retinoblastoma: a tool for the clinical laboratory
Q36276019	The polymerase chain reaction and its applications in neuropathology
Q68059946	The polymerase chain reaction and other amplification techniques in immunological research and diagnosis
Q36709579	The polymerase chain reaction in histopathology
Q77419252	The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction
Q36619487	The potential of electrophoretic mobility shift assays for clinical mutation detection
Q24517962	The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
Q77346590	The procedure of polymerase chain reaction-restriction fragment-single strand conformation polymorphism analysis by Hha I/Hinc II to detect mitochondrial DNA mutations
Q73531171	The prothrombin nt20210 A allele as a risk factor for venous thromboembolism: detection of heterozygous and homozygous carriers by alternative methods
Q27490497	The quasispecies nature and biological implications of the hepatitis C virus
Q54166138	The retinoblastoma gene (RB-1) status in multiple myeloma: a report on 35 cases.
Q35196035	The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa
Q72895643	The serotonin 5-HT1B receptor subtype (Htr1b) gene maps to mouse chromosome 9
Q24543658	The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans
Q56512008	The study of variation in the human genome
Q36307357	The use of PCR in diagnosing lipoprotein disorders
Q61560519	The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)
Q48065772	The use of denaturing gradient gel electrophoresis in mapping the bovine tumor necrosis factor alpha gene locus.
Q38037012	The use of direct gene analysis to define beta-thalassemia
Q24308004	Three novel aniridia mutations in the human PAX6 gene
Q72781727	Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease
Q47893279	Three novel missense mutations in unrelated Japanese patients with type I and type II protein S deficiency and venous thrombosis
Q48897272	Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
Q72802841	Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen
Q77687816	Thyroid follicular oncogenesis in iodine-deficient and iodine-sufficient areas: search for alterations of the ras, met and bFGF oncogenes and of the Rb anti-oncogene
Q71069051	Time course analysis of alpha+ beta+ T cell clones during normal pregnancy
Q57242065	Time of Onset of Non-Insulin-Dependent Diabetes Mellitus and Genetic Variation in the β3-Adrenergic–Receptor Gene
Q55483927	Timing and role of p53 gene mutation in the recurrence of glioma.
Q39829057	Towards a unified genetic map for diploid roses
Q36703478	Transcript identification in the BRCA1 candidate region
Q41627156	Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement
Q46808325	Transthyretin isoleucine-122 mutation in African and American blacks
Q58151339	Transthyretin mutation (Serine 84) associated with familial amyloid polyneuropathy in a Hungarian family
Q44296375	Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family
Q24308841	Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
Q28267975	Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11
Q67556469	Tumor suppressor genes
Q40958151	Tumor suppressor genes and clonal evolution in B-CLL.
Q45886252	Twenty-one years of haemophilia
Q72049313	Two New Immunogenetic Polymorphisms of the ApoB Gene and Their Effect on Serum Lipid Levels and Responses to Changes in Dietary Fat Intake
Q43835147	Two completely linked polymorphisms in the PPARG transcriptional regulatory region significantly affect gene expression and intramuscular fat deposition in the longissimus dorsi muscle of Erhualian pigs.
Q40504819	Two dimensional single-strand conformation polymorphism analysis: a useful tool for the detection of mutations in long DNA fragments
Q37142419	Two distinct mechanisms alter p53 in breast cancer: mutation and nuclear exclusion
Q41442685	Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.
Q35012562	Two frameshift mutations in the cystic fibrosis gene.
Q72788299	Two microsatellite repeat polymorphisms flanking opposite ends of the human glucokinase gene: use in haplotype analysis of Welsh Caucasians with type 2 (non-insulin-dependent) diabetes mellitus
Q37084846	Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides
Q72223150	Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene
Q35643351	Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
Q72567837	Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia
Q50556488	Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease
Q36013274	Two nucleotides next to the anticodon of cytoplasmic rat tRNAASPare likely generated by RNA editing
Q33598200	Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
Q34401959	UNC-40, a C. elegans homolog of DCC (Deleted in Colorectal Cancer), is required in motile cells responding to UNC-6 netrin cues
Q47301408	Understanding the phylogeographic patterns of European hedgehogs, Erinaceus concolor and E. europaeus using the MHC.
Q36519091	Use of DNA polymorphisms for genetic analysis of non-insulin dependent diabetes mellitus
Q81705970	Use of capillary array electrophoresis single-strand conformational polymorphism analysis to estimate genetic diversity of candidate genes in germplasm collections
Q72176916	Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene
Q53805186	Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200-->Gly.
Q72087885	Use of the single‐strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma
Q36647764	Using single-strand conformational polymorphism gel electrophoresis to analyze mutually exclusive alternative splicing
Q41952976	Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene
Q41134314	V(D)J recombination pathology.
Q28709563	Validation of candidate gene markers for marker-assisted selection of potato cultivars with improved tuber quality
Q41984636	Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations
Q53662439	Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT. A glycosylase-mediated methods for polymorphism detection method.
Q46394545	Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients
Q72626774	Variant forms of glucokinase gene in Japanese patients with late-onset type 2 diabetes
Q42606891	Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family
Q35194275	Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis.
Q43037906	Variations in the core region of hepatitis C virus genomes in patients with chronic hepatitis
Q73066904	WAF1 expression and p53 mutations in human colorectal cancers
Q35643818	WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences
Q38043443	What We Know about the Molecular Genetics of Central Nervous System (CNS) Tumours in Malaysia
Q48768581	What's in that band?
Q43552305	William L. McGuire Memorial Symposium. The role and prognostic significance of p53 gene alterations in breast cancer
Q36817436	X rays induce interallelic homologous recombination at the human thymidine kinase gene
Q24538965	X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
Q35882758	X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Q40694880	X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene.
Q24310290	X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
Q34450526	X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
Q24323307	X-linked situs abnormalities result from mutations in ZIC3
Q74267008	X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)
Q40798780	X-ray induction of microsatellite instability at autosomal loci in human lymphoblastoid WTK1 cells
Q89782701	ZnO Nanolower-Based NanoPCR as an Efficient Diagnostic Tool for Quick Diagnosis of Canine Vector-Borne Pathogens
Q79195500	[Application of molecular biology techniques to malignant haematology]
Q28242331	beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis
Q42266981	c-src activating mutation analysis in Chinese patients with colorectal cancer
Q24317747	cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene
Q39757556	lag-2 may encode a signaling ligand for the GLP-1 and LIN-12 receptors of C. elegans
Q55317409	p16/CDKN2 gene and p53 gene alterations in Japanese non-smoking female lung adenocarcinoma.
Q55383452	p53 Gene Mutations in Esophageal Cancer Detected by Polymerase Chain Reaction Single-strand Conformation Polymorphism Analysis
Q54570494	p53 Gene mutations in sporadic colorectal carcinoma in Guangxi region.
Q46766367	p53 abnormalities in primary prostate cancer: single-strand conformation polymorphism analysis of complementary DNA in comparison with genomic DNA. The Cooperative Prostate Network
Q36115950	p53 alterations are predictive of chemoresistance and aggressiveness in ovarian carcinomas: a molecular and immunohistochemical study
Q54765421	p53 and PTEN/MMAC1 mutational analysis of the small-intestinal cancer.
Q74609168	p53 and p16INK4A mutations during the progression of glomus tumor
Q74549903	p53 and ras mutations in Ewing's sarcoma
Q36422371	p53 exon 5 mutations as a prognostic indicator of shortened survival in non-small-cell lung cancer
Q40849253	p53 gene alterations and protein accumulation in colorectal cancer
Q53441515	p53 gene mutation in N-butyl-N-(4-hydroxybutyl)nitrosamine-induced urinary bladder tumors and N-methyl-N-nitrosourea-induced colon tumors of rats.
Q55030361	p53 gene mutation in hepatocellular carcinoma induced by 2-amino-3-methylimidazo[4,5-f]quinoline in nonhuman primates.
Q40848830	p53 gene mutation in the bone-marrow of a patient with diffuse mixed cell type lymphoma at diagnosis predicting eventual progression to large cell lymphoma
Q35833480	p53 gene mutations and MDM2 amplification are uncommon in primary carcinomas of the uterine cervix
Q73594944	p53 gene mutations and expression of p53 and mdm2 proteins in invasive breast carcinoma. A comparative analysis with clinico-pathological factors
Q35765367	p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis.
Q53465954	p53 gene mutations in early colorectal carcinoma. de novo vs. adenoma‐carcinoma sequence
Q77585463	p53 gene mutations in osteosarcomas of low-grade malignancy
Q48428560	p53 gene mutations in primary lung tumors are conserved in brain metastases
Q44695110	p53 gene mutations in rectal cancer associated with schistosomiasis japonica in Chinese patients
Q73401667	p53 gene mutations in soft-tissue sarcomas--correlations with p53 immunohistochemistry and DNA ploidy
Q41330138	p53 gene mutations with chromosome 17 abnormalities in chronic myelogenous leukemia blast crisis patients persist in long term cell lines but may be acquired in acute myeloid leukemia cells in vitro
Q77938281	p53 inactivating mutations in Chinese nasopharyngeal carcinomas
Q73064526	p53 mutation and absence of mdm2 amplification and Ki-ras mutation in 4-hydroxyamino quinoline 1-oxide induced transplantable osteosarcomas in rats
Q53462145	p53 mutation without allelic loss and absence of mdm‐2 amplification in a transplantable hamster pancreatic ductal adenocarcinoma and derived cell lines but not primary ductal adenocarcinomas in hamsters
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Q28343325	Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis im

P356	DOI	10.1016/0888-7543(89)90129-8
P3181	OpenCitations bibliographic resource ID	1634770
P698	PubMed publication ID	2687159

P2093	author name string	Suzuki Y
		Hayashi K
		Sekiya T
		Orita M
P4510	describes a project that uses	polymerase chain reaction	Q176996
P433	issue	4
P407	language of work or name	English	Q1860
P304	page(s)	874-9
P577	publication date	1989-11-01
P1433	published in	Genomics	Q5533503
P1476	title	Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
P478	volume	5

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

scientific article (publication date: November 1989)

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