Molecular diagnosis of putative Stargardt disease by capture next generation sequencing

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing

Item
http://www.wikidata.org/entity/Q28538229
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisA recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese familyComprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsAn intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationGenomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Novel mutations in PDE6B causing human retinitis pigmentosaNavigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
P2860

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing

Item
http://www.wikidata.org/entity/Q28538229
description
2014 nî lūn-bûn
@nan
2014 թուականին հրատարակուած գիտական յօդուած
@hyw
2014 թվականին 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
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@ast
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@en
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@nl
type
label
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@ast
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@en
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@nl
prefLabel
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@ast
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@en
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0095528
P407
P433
P478
P50
P577
P5875
P698
P932