Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
about
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaMYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeComplete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsThe efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceCurrent understanding of usher syndrome type II.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.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.Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
P2860
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P2860
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Mutation analysis in the long ...... s with Usher Syndrome type II.
@ast
Mutation analysis in the long ...... s with Usher Syndrome type II.
@en
type
label
Mutation analysis in the long ...... s with Usher Syndrome type II.
@ast
Mutation analysis in the long ...... s with Usher Syndrome type II.
@en
prefLabel
Mutation analysis in the long ...... s with Usher Syndrome type II.
@ast
Mutation analysis in the long ...... s with Usher Syndrome type II.
@en
P2093
P2860
P356
P1476
Mutation analysis in the long ...... ts with Usher Syndrome type II
@en
P2093
D Michael Patterson
Denise Yan
Xiaomei Ouyang
Xue-Zhong Liu
P2860
P2888
P304
P356
10.1038/JHG.2009.107
P577
2009-10-30T00:00:00Z