Article
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
Scientific reports - 16 May 2017
Huang Lulin, Zhang Qi, Huang Xin, Qu Chao, Ma Shi, Mao Yao, Yang Jiyun, Li You, Li Yuanfeng, Tan Chang, Zhao Peiquan, Yang Zhenglin
Abstract excerpt
Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we...
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