A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
about
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.Mutations in spliceosomal proteins and retina degenerationBrr2 plays a role in spliceosomal activation in addition to U4/U6 unwinding.Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesNovel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese familyContribution of SNRNP200 sequence variations to retinitis pigmentosa.Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosaDetecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.
P2860
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P2860
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@ast
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@en
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@nl
type
label
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@ast
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@en
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@nl
prefLabel
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@ast
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@en
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@nl
P2093
P2860
P1433
P1476
A novel missense SNRNP200 muta ...... igmentosa in a Chinese family.
@en
P2093
Baoquan Zhang
Huijun Yuan
Jing Cheng
Lijuan Wang
Maonian Zhang
Tiecheng Liu
Weifeng Wang
P2860
P304
P356
10.1371/JOURNAL.PONE.0045464
P407
P577
2012-09-19T00:00:00Z