Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
about
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaarrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Mutations in spliceosomal proteins and retina degenerationInterpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
P2860
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutational screening of splici ...... dominant retinitis pigmentosa
@ast
Mutational screening of splici ...... dominant retinitis pigmentosa
@en
type
label
Mutational screening of splici ...... dominant retinitis pigmentosa
@ast
Mutational screening of splici ...... dominant retinitis pigmentosa
@en
prefLabel
Mutational screening of splici ...... dominant retinitis pigmentosa
@ast
Mutational screening of splici ...... dominant retinitis pigmentosa
@en
P2093
P2860
P1433
P1476
Mutational screening of splici ...... dominant retinitis pigmentosa
@en
P2093
Almudena Avila-Fernandez
Carmen Ayuso
Christian Hamel
Eliot L Berson
Gaël Manes
Paola Benaglio
Patricia Fernandez San Jose
Shyana Harper
P2860
P304
P577
2014-06-18T00:00:00Z