Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
about
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyPanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaLoss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesHomozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
P2860
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Identification of a novel nons ...... entosa in an Indonesian family
@ast
Identification of a novel nons ...... entosa in an Indonesian family
@en
Identification of a novel nons ...... entosa in an Indonesian family
@nl
type
label
Identification of a novel nons ...... entosa in an Indonesian family
@ast
Identification of a novel nons ...... entosa in an Indonesian family
@en
Identification of a novel nons ...... entosa in an Indonesian family
@nl
prefLabel
Identification of a novel nons ...... entosa in an Indonesian family
@ast
Identification of a novel nons ...... entosa in an Indonesian family
@en
Identification of a novel nons ...... entosa in an Indonesian family
@nl
P2093
P2860
P1433
P1476
Identification of a novel nons ...... entosa in an Indonesian family
@en
P2093
Anna M Siemiatkowska
Anneke I den Hollander
Frans P M Cremers
Galuh D N Astuti
Kentar Arimadyo
Rob W J Collin
Sultana M H Faradz
P2860
P304
P577
2012-10-03T00:00:00Z