Article
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.
Human molecular genetics - 1 Dec 2018
Zhang Lin, Sun Zixi, Zhao Peiquan, Huang Lulin, Xu Mingchu, Yang Yeming, Chen Xue, Lu Fang, Zhang Xiang, Wang Hui, Zhang Shanshan, Liu Wenjing, Jiang Zhilin, Ma Shi, Chen Rui, Zhao Chen, Yang Zhenglin, Sui Ruifang, Zhu Xianjun
Abstract excerpt
Retinitis pigmentosa (RP) is an inheritable retina degenerative disease leading to blindness. Despite the identification of 70 genes associated with RP, the genetic cause of ∼40% of RP patients remains to be elucidated. Whole-exome sequencing was applied on the probands of a RP cohort of 68 unsolved cases to identify candidate genetic mutations. A homozygous missense variant (c.173C > T, p.T58 M) was found in...
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