Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Item
http://www.wikidata.org/entity/Q33740962
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaThree gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 miceDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.RNA mis-splicing in disease.PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.
P2860

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Item
http://www.wikidata.org/entity/Q33740962
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@ast
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@en
type
label
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@ast
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@en
prefLabel
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@ast
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P577
P698
P932
P1433
P1476
Variable phenotypic expressivi ...... 94M mutation in the PRPF3 gene
@en
P2093
P2860
P304
P31
P478
P577
P698
P932