Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
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HypophosphatasiaA formalized description of the standard human variant nomenclature in Extended Backus-Naur FormChallenges in the association of human single nucleotide polymorphism mentions with unique database identifiersNovel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structureThe gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystinDecreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and miceStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceMutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsIdentification of the gene for oral-facial-digital type I syndromeN-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomCharacterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase geneDatabase resources of the National Center for Biotechnology InformationSpectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testSensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastomaA mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1The discovery of new coding alleles of human CYP26A1 that are potentially defective in the metabolism of all-trans retinoic acid and their assessment in a recombinant cDNA expression systemMutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyDigenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismMutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformationsStandard mutation nomenclature in molecular diagnostics: practical and educational challengesIPD--the Immuno Polymorphism DatabasePathophysiology of hypophosphatasia and the potential role of asfotase alfaDecoding mechanisms by which silent codon changes influence protein biogenesis and functionNomenclature of human platelet antigensDetermination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitisVHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortalityExpanding the phenotype and genotype of female GnRH deficiencyRole of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturationIdentification of a cAMP-response element in the regulator of G-protein signaling-2 (RGS2) promoter as a key cis-regulatory element for RGS2 transcriptional regulation by angiotensin II in cultured vascular smooth musclesStructural interpretation of mutations and SNPs using STRAP-NT.Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismHigh occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testingPhenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement.WRN helicase expression in Werner syndrome cell linesNeurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
P2860
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P2860
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh
1998年學術文章
@zh-hant
name
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@en
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@nl
type
label
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@en
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@nl
prefLabel
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@en
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@nl
P1433
P1476
Recommendations for a nomencla ...... s. Nomenclature Working Group.
@en
P2093
Antonarakis SE
P356
10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.3.CO;2-E
P577
1998-01-01T00:00:00Z