Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing tech...

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Bibliographic Details
Main Authors: Gong, Bo, Wei, Bo, Huang, Lulin, Hao, Jilong, Li, Xiulan, Yang, Yin, Zhou, Yu, Hao, Fang, Cui, Zhihua, Zhang, Dingding, Wang, Le, Zhang, Houbin
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466393/