A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

Item
http://www.wikidata.org/entity/Q28307487
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS geneCone structure in retinal degeneration associated with mutations in the peripherin/RDS geneDetection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin geneLinkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.Genetics of age-related macular degeneration: current concepts, future directions.Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosaMutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatusAutosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.Multimodal imaging of adult-onset foveomacular vitelliform dystrophy.Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.The phenotypic variability of HK1-associated retinal dystrophy.High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
P2860

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

Item
http://www.wikidata.org/entity/Q28307487
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@ast
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@en
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@nl
type
label
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@ast
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@en
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@nl
prefLabel
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@ast
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@en
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
A peripherin/retinal degenerat ...... eripheral retinal degeneration
@en
P2093
P304
P31
P356
10.1016/S0161-6420(95)31029-9
P407
P433
P478
P577
P698