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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043610/
https://www.ncbi.nlm.nih.gov/pubmed/24940031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043610/
https://www.ncbi.nlm.nih.gov/pubmed/24940031

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