| scholarly article | Q13442814 |
| P50 | author | Mikkel B Christensen | Q56805324 |
| P2093 | author name string | Igor Vorechovský | |
| Jana Královicová | |||
| P2860 | cites work | The molecular basis of malonyl-CoA decarboxylase deficiency. | Q22010415 |
| COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II | Q24291045 | ||
| A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome | Q24306514 | ||
| Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa | Q24309027 | ||
| Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis | Q24310293 | ||
| A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families | Q24313454 | ||
| The human chitotriosidase gene. Nature of inherited enzyme deficiency | Q24315794 | ||
| Evidence that U5 snRNP recognizes the 3' splice site for catalytic step II in mammals | Q24532589 | ||
| High frequency of large intragenic deletions in the Fanconi anemia group A gene | Q24534222 | ||
| The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers | Q24535763 | ||
| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 | ||
| snRNA interactions at 5' and 3' splice sites monitored by photoactivated crosslinking in yeast spliceosomes | Q24539157 | ||
| The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease | Q24540182 | ||
| An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing | Q24551016 | ||
| Characterization of a splicing mutation in group A xeroderma pigmentosum | Q24556519 | ||
| Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site | Q24564737 | ||
| Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I | Q24612309 | ||
| RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression | Q24633499 | ||
| Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan | Q24672499 | ||
| Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency | Q24672931 | ||
| Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2) | Q24673202 | ||
| New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome | Q24673228 | ||
| Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) | Q24675360 | ||
| Spectrum of mutations in the Batten disease gene, CLN3 | Q24678552 | ||
| Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency | Q24678910 | ||
| A catalogue of splice junction sequences | Q27860696 | ||
| Prp22, a DExH-box RNA helicase, plays two distinct roles in yeast pre-mRNA splicing | Q27934705 | ||
| Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia | Q28115487 | ||
| Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update | Q28116963 | ||
| Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online | Q28141370 | ||
| Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome | Q28145552 | ||
| Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45 | Q28217970 | ||
| A novel mutation in the spastin gene in a family with spastic paraplegia | Q28218618 | ||
| Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase | Q28241646 | ||
| Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families | Q28243574 | ||
| Dual function for U2AF(35) in AG-dependent pre-mRNA splicing | Q39528869 | ||
| Functional and physical interaction between the yeast splicing factors Slu7 and Prp18. | Q39720111 | ||
| Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome | Q39798181 | ||
| Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain | Q39814751 | ||
| Intrinsic differences between authentic and cryptic 5' splice sites | Q40240461 | ||
| The carboxyl terminus of vertebrate poly(A) polymerase interacts with U2AF 65 to couple 3'-end processing and splicing | Q40442143 | ||
| Genetic studies on myeloperoxidase deficiency in Italy. | Q40499430 | ||
| Distinct mechanisms lead to HPRT gene mutations in leukemic cells | Q40586884 | ||
| Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. | Q40646017 | ||
| Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene | Q40728596 | ||
| Characterization of germline TP53 splicing mutations and their genetic and functional analysis | Q40797027 | ||
| Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. | Q40942783 | ||
| Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. | Q41017117 | ||
| Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes. | Q41448763 | ||
| Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing | Q41478328 | ||
| Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins | Q41639779 | ||
| Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe | Q41663202 | ||
| Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus | Q41714572 | ||
| Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a | Q41771617 | ||
| A novel function for the U2AF 65 splicing factor in promoting pre-mRNA 3'-end processing. | Q41837652 | ||
| Natural selection affects frequencies of AG and GT dinucleotides at the 5' and 3' ends of exons | Q42002516 | ||
| Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression | Q42124182 | ||
| Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen | Q42467850 | ||
| Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex | Q42525637 | ||
| The role of branchpoint-3' splice site spacing and interaction between intron terminal nucleotides in 3' splice site selection in Saccharomyces cerevisiae | Q42611009 | ||
| Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis | Q42673100 | ||
| Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy | Q42686876 | ||
| Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients | Q43074091 | ||
| Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome | Q43076055 | ||
| The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene | Q43491648 | ||
| Scanning from an independently specified branch point defines the 3' splice site of mammalian introns | Q43653965 | ||
| A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. | Q44033932 | ||
| A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. | Q45084243 | ||
| Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. | Q45088247 | ||
| Glucose-6-phosphate dehydrogenase (G6PD) deficiency-type Zurich: a splice site mutation as an uncommon mechanism producing enzyme deficiency. | Q45091338 | ||
| Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene | Q45104766 | ||
| Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients | Q45191322 | ||
| Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12 | Q28248031 | ||
| ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency | Q28254730 | ||
| Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene | Q28260520 | ||
| Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa | Q28261159 | ||
| Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness | Q28264702 | ||
| A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection | Q28277109 | ||
| A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 | Q28279643 | ||
| Exon recognition in vertebrate splicing | Q29615088 | ||
| Listening to silence and understanding nonsense: exonic mutations that affect splicing | Q29618493 | ||
| Predictive identification of exonic splicing enhancers in human genes | Q29618621 | ||
| The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences | Q29619441 | ||
| A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene | Q31850309 | ||
| Systematic identification and analysis of exonic splicing silencers. | Q33210154 | ||
| Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia | Q33330210 | ||
| Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain | Q33633029 | ||
| Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products | Q33654059 | ||
| Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD | Q33678004 | ||
| Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. | Q33843918 | ||
| Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron | Q33880476 | ||
| The RNA splicing factor hSlu7 is required for correct 3' splice-site choice | Q33887645 | ||
| Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome | Q33909933 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| Variation in antiviral 2',5'-oligoadenylate synthetase (2'5'AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene | Q33942146 | ||
| Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay | Q33957567 | ||
| Are splicing mutations the most frequent cause of hereditary disease? | Q33985993 | ||
| Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families | Q34035972 | ||
| Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus | Q34231838 | ||
| Identification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer | Q34257169 | ||
| Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project | Q34311043 | ||
| The essential pre-mRNA splicing factor SF2 influences 5' splice site selection by activating proximal sites. | Q34342937 | ||
| Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity | Q34363539 | ||
| Sex lethal and U2 small nuclear ribonucleoprotein auxiliary factor (U2AF65) recognize polypyrimidine tracts using multiple modes of binding | Q34364947 | ||
| Computational definition of sequence motifs governing constitutive exon splicing. | Q34372912 | ||
| Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. | Q34384716 | ||
| Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia | Q78526712 | ||
| Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy | Q78734468 | ||
| Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin | Q80593067 | ||
| Branch site haplotypes that control alternative splicing | Q80889042 | ||
| Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation | Q81694250 | ||
| Alternative splicing of a novel glycophorin allele GPHe(GL) generates two protein isoforms in the human erythrocyte membrane | Q95819378 | ||
| Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences | Q34389747 | ||
| Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing | Q34504960 | ||
| Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information | Q34609519 | ||
| Functional analysis of the polypyrimidine tract in pre-mRNA splicing | Q34625830 | ||
| Evidence for a linear search in bimolecular 3' splice site AG selection | Q34967051 | ||
| Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene | Q35063672 | ||
| Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis | Q35093419 | ||
| Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor | Q35189351 | ||
| Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts | Q35238568 | ||
| Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses | Q35249090 | ||
| Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation | Q35250011 | ||
| Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease) | Q35260756 | ||
| Base substitution in an intervening sequence of a beta+-thalassemic human globin gene | Q35351033 | ||
| Three recognition events at the branch-site adenine. | Q35846398 | ||
| A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier | Q36115568 | ||
| beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site | Q36249573 | ||
| Genetic selection for balanced retroviral splicing: novel regulation involving the second step can be mediated by transitions in the polypyrimidine tract | Q36550993 | ||
| Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns | Q36695561 | ||
| Identification of cis-acting intron and exon regions in influenza virus NS1 mRNA that inhibit splicing and cause the formation of aberrantly sedimenting presplicing complexes | Q36962386 | ||
| General splicing factors SF2 and SC35 have equivalent activities in vitro, and both affect alternative 5' and 3' splice site selection | Q37313962 | ||
| Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity | Q37378665 | ||
| The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel | Q37478529 | ||
| Variation in sequence and organization of splicing regulatory elements in vertebrate genes | Q37591781 | ||
| Extensive interactions of PRP8 protein with the 5' and 3' splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA. | Q38294598 | ||
| Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene. | Q38339323 | ||
| Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia | Q38343194 | ||
| Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. | Q38362003 | ||
| Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts | Q39498637 | ||
| Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection | Q45877614 | ||
| Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations | Q45883888 | ||
| Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). | Q45885356 | ||
| A novel HLA-B*39 allele (HLA-B*3916) due to a rare mutation causing cryptic splice site activation | Q46251068 | ||
| Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia | Q47800846 | ||
| Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences | Q47816362 | ||
| Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. | Q47860369 | ||
| Beta + thalassemia: aberrant splicing results from a single point mutation in an intron | Q48407285 | ||
| A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online | Q48763057 | ||
| Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects | Q49075460 | ||
| Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. | Q52544108 | ||
| Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. | Q54158519 | ||
| Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. | Q54329563 | ||
| Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. | Q55476319 | ||
| Cystic fibrosis patients with the 3272-26A?G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane | Q57762504 | ||
| Mutant transcripts of the LDL receptor gene: mRNA structure and quantity | Q58143918 | ||
| Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland | Q59409774 | ||
| Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum | Q62712510 | ||
| Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions | Q67540256 | ||
| Molecular analysis of mutations affecting hprt mRNA splicing in human T-lymphocytes in vivo | Q67732488 | ||
| A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease | Q67783629 | ||
| A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred | Q71339787 | ||
| A novel A-->G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency | Q71536219 | ||
| Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism | Q71689261 | ||
| Construction of a novel database containing aberrant splicing mutations of mammalian genes | Q72375551 | ||
| Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation | Q72776716 | ||
| Abnormally spliced messenger RNA in erythroid cells from patients with β+ thalassemia and monkey cells expressing a cloned β+-thalassemic gene | Q72929076 | ||
| Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C] | Q72992412 | ||
| Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects | Q73111315 | ||
| Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population | Q73516153 | ||
| Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion | Q73583362 | ||
| Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions | Q73593608 | ||
| A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder | Q73699431 | ||
| Novel p53 splice site mutations in three families with Li-Fraumeni syndrome | Q74298014 | ||
| Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene | Q74376888 | ||
| Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia | Q74376892 | ||
| Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex | Q74605849 | ||
| Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online | Q77313500 | ||
| A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis. Mutations in brief no. 145. Online | Q77313545 | ||
| Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online | Q77313554 | ||
| Implications of a novel cryptic splice site in the BRCA1 gene | Q77521842 | ||
| A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1 | Q77663702 | ||
| Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease | Q77694546 | ||
| Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan | Q77738158 | ||
| Phenylketonuria mutations in Germany | Q77965003 | ||
| P433 | issue | 15 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | bias | Q742736 |
| P304 | page(s) | 4882-98 | |
| P577 | publication date | 2005-01-01 | |
| P1433 | published in | Nucleic Acids Research | Q135122 |
| P1476 | title | Biased exon/intron distribution of cryptic and de novo 3' splice sites | |
| P478 | volume | 33 |
| Q36671251 | A novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site |
| Q37365488 | A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance |
| Q39113625 | Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization |
| Q42430246 | Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization |
| Q37577401 | Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons |
| Q52608849 | An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome. |
| Q38319037 | Compensatory signals associated with the activation of human GC 5' splice sites |
| Q33314622 | Computational analysis of splicing errors and mutations in human transcripts |
| Q21144446 | Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65) |
| Q42645159 | Cryptic splicing sites are differentially utilized in vivo |
| Q36541361 | Defective splicing, disease and therapy: searching for master checkpoints in exon definition. |
| Q39873966 | Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. |
| Q42160941 | Does distance matter? Variations in alternative 3' splicing regulation |
| Q33511672 | Dual effect of a single nucleotide polymorphism in the first intron of the porcine secreted phosphoprotein 1 gene: allele-specific binding of C/EBP beta and activation of aberrant splicing |
| Q46901840 | Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes |
| Q57053862 | From Bedside to Bench: How to Analyze a Splicing Mutation |
| Q40078319 | Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition |
| Q91430029 | Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU |
| Q39771516 | Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3' splice-site organization and activity of U2AF-related proteins. |
| Q34364049 | Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region |
| Q40256499 | Phenotypic consequences of branch point substitutions |
| Q88492713 | Predicting gene structure changes resulting from genetic variants via exon definition features |
| Q24564988 | Revised genomic structure of the human ghrelin gene and identification of novel exons, alternative splice variants and natural antisense transcripts |
| Q40238882 | SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs |
| Q26752221 | Spliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesis |
| Q93177519 | Splicing of long non-coding RNAs primarily depends on polypyrimidine tract and 5' splice-site sequences due to weak interactions with SR proteins |
| Q51853046 | Systematic evaluation of the effect of common SNPs on pre-mRNA splicing. |
| Q55061836 | Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes. |
| Q35551814 | Trafficking protein particle complex 6A delta (TRAPPC6AΔ) is an extracellular plaque-forming protein in the brain |
| Q35577014 | Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers |
| Q28248354 | U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites |
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