Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa

PURPOSE: Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutatio...

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Detalhes bibliográficos
Main Authors: Pan, Xinyuan, Chen, Xue, Liu, Xiaoxing, Gao, Xiang, Kang, Xiaoli, Xu, Qihua, Chen, Xuejuan, Zhao, Kanxing, Zhang, Xiumei, Chu, Qiaomei, Wang, Xiuying, Zhao, Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043610/
https://ncbi.nlm.nih.gov/pubmed/24940031
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