| scholarly article | Q13442814 |
| review article | Q7318358 |
| P6179 | Dimensions Publication ID | 1034562333 |
| P356 | DOI | 10.1038/NG1093-111 |
| P698 | PubMed publication ID | 8252035 |
| P5875 | ResearchGate publication ID | 14947327 |
| P50 | author | Markus Grompe | Q28967735 |
| P2093 | author name string | Grompe M | |
| P2860 | cites work | DNA sequencing with chain-terminating inhibitors | Q22066207 |
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| A new method for sequencing DNA | Q24605576 | ||
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| Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification | Q24633695 | ||
| Detection of specific sequences among DNA fragments separated by gel electrophoresis | Q25939003 | ||
| The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein | Q28118471 | ||
| Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene | Q28181722 | ||
| Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms | Q28256462 | ||
| The CpG dinucleotide and human genetic disease | Q28296311 | ||
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| Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations | Q33582011 | ||
| Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene | Q33593859 | ||
| Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus | Q33655616 | ||
| Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes | Q33829075 | ||
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| Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families | Q34035972 | ||
| Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients | Q34203571 | ||
| Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification | Q34326348 | ||
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| The spectrum of cystic fibrosis mutations | Q35150488 | ||
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| Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning | Q36130134 | ||
| The molecular basis of the sparse fur mouse mutation | Q36468067 | ||
| Coupled amplification and sequencing of genomic DNA | Q37463044 | ||
| Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells | Q37593781 | ||
| Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease | Q39419151 | ||
| Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction | Q40518044 | ||
| Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis | Q40568914 | ||
| Geographical clusters of dengue virus type 2 isolates based on analysis of infected cell RNA by the chemical cleavage at mismatch method | Q40727183 | ||
| Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis | Q42036984 | ||
| Diagnosis of Ewing's sarcoma and peripheral neuroectodermal tumour based on the detection of t(11;22) using fluorescence in situ hybridisation | Q42038420 | ||
| Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening | Q44492485 | ||
| Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. | Q54188106 | ||
| Complete mutation detection using unlabeled chemical cleavage. | Q54282626 | ||
| Detection of single DNA base mutations with mismatch repair enzymes | Q54672234 | ||
| [31] Detection and localization of single base changes by denaturing gradient gel electrophoresis | Q56542213 | ||
| Detecting single base substitutions as heteroduplex polymorphisms | Q58278020 | ||
| Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels | Q63383637 | ||
| Nonisotopic SSCP detection in PCR products by ethidium bromide staining | Q67534335 | ||
| Temperature gradient gel electrophoresis: detection of a single base substitution in the cattle beta-lactoglobulin gene | Q67567654 | ||
| High-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations | Q67593679 | ||
| New protocols for DNA sequencing with dye terminators | Q67598339 | ||
| A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes | Q67678941 | ||
| Methods for analysis of multiple cystic fibrosis mutations | Q68009006 | ||
| Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR | Q68147477 | ||
| Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene | Q68170259 | ||
| Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations | Q68170270 | ||
| DNA duplication associated with Charcot-Marie-Tooth disease type 1A | Q68308484 | ||
| Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage | Q68975750 | ||
| Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism | Q69393557 | ||
| Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis | Q69817287 | ||
| Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels | Q70116421 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 111-117 | |
| P577 | publication date | 1993-10-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | The rapid detection of unknown mutations in nucleic acids | |
| P478 | volume | 5 |
| Q30718645 | A decade of high-resolution liquid chromatography of nucleic acids on styrene-divinylbenzene copolymers |
| Q47300740 | A microfluidic chip capable of generating and trapping emulsion droplets for digital loop-mediated isothermal amplification analysis |
| Q34654930 | A novel process for mutation detection using uracil DNA-glycosylase. |
| Q34397902 | A simple p53 functional assay for screening cell lines, blood, and tumors |
| Q39721828 | Allele identification using immobilized mismatch binding protein: detection and identification of antibiotic-resistant bacteria and determination of sheep susceptibility to scrapie |
| Q54133757 | Analysis of clinically relevant, diagnostic DNA by capillary zone and double-gradient gel slab electrophoresis. |
| Q39724486 | Automated detection of point mutations using fluorescent sequence trace subtraction |
| Q33644841 | BRCA1 and BRCA2 gene mutations and risk of breast cancer. Public health perspectives |
| Q35238484 | BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group |
| Q47727408 | Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis |
| Q24677024 | Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism |
| Q40870544 | Capillary electrophoresis of DNA for molecular diagnostics |
| Q45870819 | Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication |
| Q24538768 | Characterization of mutations in patients with multiple endocrine neoplasia type 1. |
| Q57640061 | Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families |
| Q36340345 | Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals |
| Q44021760 | Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models |
| Q35881881 | Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing |
| Q41366940 | DNA diagnosis of X-linked adrenoleukodystrophy |
| Q40871599 | DNA variation and the future of human genetics |
| Q34868968 | Database of p53 gene somatic mutations in human tumors and cell lines |
| Q83207616 | Defining the molecular genetic basis of idiopathic dilated cardiomyopathy |
| Q33706651 | Demystified ... the polymerase chain reaction |
| Q39723322 | Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations |
| Q47787536 | Detecting individual genetic variation |
| Q78171323 | Detection of mutations by automated fluorescence/RNA-based dideoxy fingerprinting (ARddF) |
| Q72161213 | Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases |
| Q57635521 | Detection of mutations in COL4A5 in patients with Alport Syndrome |
| Q73145513 | Detection of point mutations by capillary electrophoresis with temporal temperature gradients |
| 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 |
| 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 |
| Q42590652 | Detection of unknown mutations in DNA: a catch-22. |
| Q35746852 | Development of a yeast stop codon assay readily and generally applicable to human genes |
| Q77641088 | Discrimination among Pediocin AcH/PA-1 producer strains by comparison of pedB and pedD amplified genes and by multiplex PCR assay |
| Q59275449 | Double- and single-strand conformation polymorphism analysis of point mutations and short tandem repeats |
| Q36534191 | Double-stem Hairpin Probe and Ultrasensitive Colorimetric Detection of Cancer-related Nucleic Acids |
| Q33933796 | Effects of chemical contaminants on genetic diversity in natural populations: implications for biomonitoring and ecotoxicology |
| Q78022762 | Efficient identification of point mutations by automated DNA sequencing of artificial heterozygote samples |
| Q61947152 | Electrochemical Detection of FAM134B Mutations in Oesophageal Cancer Based on DNA-Gold Affinity Interactions |
| Q36839232 | Enhanced XPA mRNA levels in cisplatin-resistant human ovarian cancer are not associated with XPA mutations or gene amplification. |
| Q35881940 | Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema |
| Q34386597 | Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease |
| Q78107693 | Expression of p53 and retinoblastoma gene in high-grade nodal peripheral T-cell lymphomas: immunohistochemical and molecular findings suggesting different pathogenetic pathways and possible clinical implications |
| Q34636869 | Future research directions in the use of biomarkers |
| Q74485238 | Gene analysis of the N-terminal region of the estrogen receptor alpha in preeclampsia |
| Q71696189 | Gene and genome scanning by two-dimensional DNA typing |
| Q40981363 | Genetic predisposition to breast cancer |
| Q33953444 | Genetic predispositions to acute and chronic pancreatitis |
| Q41180791 | Genetic screening, testing and treatment: how far can we go? |
| Q40428400 | Genetics of Chromosome 11: Loci for Pediatric and Adult Malignancies, Developmental Disorders, and Other Diseases |
| Q48049188 | Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets |
| Q33178667 | Genomics, mutations and the Internet: the naming and use of parts |
| Q74431196 | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients |
| Q34175539 | Germ line mutations associated with breast cancer susceptibility |
| Q92445772 | Graphene Oxide-Based Nanostructured DNA Sensor |
| Q46570123 | HLA-G exhibits low level of polymorphism in indigenous East Africans |
| Q40484335 | Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond |
| Q33988330 | Homoduplex and heteroduplex polymorphisms of the amplified ribosomal 16S-23S internal transcribed spacers describe genetic relationships in the "Bacillus cereus group". |
| Q41745493 | How genetic defects are identified |
| Q40743150 | Human germ cell mutagens |
| Q24539167 | Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations |
| Q58183752 | Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis |
| Q71636662 | Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis |
| Q24561788 | Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5) |
| Q40975947 | Inherited breast cancer |
| Q33735060 | Investigation of muscle disease |
| Q40549921 | Lessons learned from epidemiologic studies of environmental exposure and genetic disease |
| Q35126395 | Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity |
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| Q39489737 | Molecular characterization and identification of Bacillus clausii Strains marketed for use in oral bacteriotherapy |
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| Q33677027 | Monogenic traits are not simple: lessons from phenylketonuria |
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| Q40396149 | Mutation detection using immobilized mismatch binding protein (MutS). |
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