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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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
Format: Artigo
Language:Inglês
Published: Molecular Vision 2014
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043610/
https://ncbi.nlm.nih.gov/pubmed/24940031
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