Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
about
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationNext-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsNovel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencingThe phenotypic variability of HK1-associated retinal dystrophy.Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
description
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im April 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/04/15)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/04/15)
@nl
наукова стаття, опублікована у квітні 2016
@uk
مقالة علمية (نشرت في 15-4-2016)
@ar
name
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@ast
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@en
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@nl
type
label
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@ast
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@en
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@nl
prefLabel
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@ast
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@en
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@nl
P2093
P2860
P3181
P356
P1476
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
@en
P2093
Adva Kimchi
Aiden Eblimit
Dror Sharon
Hiroshi Manya
Irma Lopez
Mingchu Xu
Robert K. Koenekoop
P2860
P304
P3181
P356
10.1093/HMG/DDW022
P577
2016-04-15T00:00:00Z