Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
about
Mutations in spliceosomal proteins and retina degenerationTargeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemiaMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesLoss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesTargeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.
P2860
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P2860
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին 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
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@ast
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@en
type
label
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@ast
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@en
prefLabel
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@ast
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@en
P2093
P2860
P1433
P1476
Mutation analysis of pre-mRNA ...... ies with retinitis pigmentosa.
@en
P2093
Kanxing Zhao
Qiaomei Chu
Xiaoli Kang
Xiaoxing Liu
Xinyuan Pan
Xiumei Zhang
Xiuying Wang
P2860
P304
P577
2014-06-02T00:00:00Z