Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

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http://www.wikidata.org/entity/Q37288056
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationWhole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studiesTargeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingNovel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesCombined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

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http://www.wikidata.org/entity/Q37288056
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Whole-exome sequencing identif ...... recessive retinitis pigmentosa
@en
Whole-exome sequencing identif ...... ecessive retinitis pigmentosa.
@nl
type
label
Whole-exome sequencing identif ...... recessive retinitis pigmentosa
@en
Whole-exome sequencing identif ...... ecessive retinitis pigmentosa.
@nl
prefLabel
Whole-exome sequencing identif ...... recessive retinitis pigmentosa
@en
Whole-exome sequencing identif ...... ecessive retinitis pigmentosa.
@nl
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P932
P1433
P1476
Whole-exome sequencing identif ...... recessive retinitis pigmentosa
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P932