Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Item
http://www.wikidata.org/entity/Q34277608
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencingNovel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese familyWhole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian PopulationPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
P2860

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Item
http://www.wikidata.org/entity/Q34277608
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին 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
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@ast
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@en
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@nl
type
label
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@ast
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@en
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@nl
prefLabel
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@ast
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@en
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Whole exome analysis identifie ...... recessive retinitis pigmentosa
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0108721
P407
P433
P478
P50
P577
P5875
P698
P932