Article
A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.
Human genetics - 1 Dec 2016
Zhang Jinlu, Wang Changguan, Shen Yan, Chen Ningning, Wang Likun, Liang Ling, Guo Tong, Yin Xiaobei, Ma Zhizhong, Zhang Bo, Yang Liping
Abstract excerpt
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness, visual field constriction, and severely reduced visual acuity. Despite a number of genes being implicated in RP pathogenesis, the genetic etiology of the disease remains unknown in many patients. In this study, our aim was to identify the disease-causing mutation of a large Chinese family with...
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