Article
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Oncotarget - 23 May 2017
Huang Hui, Wang Ying, Chen Huishuang, Chen Yanhua, Wu Jing, Chiang Pei-Wen, Fan Ning, Su Yan, Deng Jianlian, Chen Dongna, Li Yang, Zhang Xinxin, Zhang Mengxin, Liang Shengran, Banerjee Santasree, Qi Ming, Liu Xuyang
Abstract excerpt
As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of...
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