A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity
about
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsA 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosaLinkage analysis of X linked retinitis pigmentosa in the Irish population.Phenotype-genotype correlations in X linked retinitis pigmentosa.Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish familyNine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociGenetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityRetinitis pigmentosa and allied conditions today: a paradigm of translational researchMutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaLinkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneityCharacterization of two dominant alleles of the major rhodopsin-encoding gene ninaE in DrosophilaNonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossBimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
P2860
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P2860
A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity
description
1984 nî lūn-bûn
@nan
1984 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1984年の論文
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1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
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name
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@ast
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@en
type
label
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@ast
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@en
prefLabel
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@ast
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@en
P2860
P1476
A study of retinitis pigmentos ...... ical and genetic heterogeneity
@en
P2093
P2860
P304
P407
P577
1984-12-01T00:00:00Z