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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Pan, Xinyuan, Chen, Xue, Liu, Xiaoxing, Gao, Xiang, Kang, Xiaoli, Xu, Qihua, Chen, Xuejuan, Zhao, Kanxing, Zhang, Xiumei, Chu, Qiaomei, Wang, Xiuying, Zhao, Chen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043610/
https://ncbi.nlm.nih.gov/pubmed/24940031
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