Article
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2015
Yu Ping, Cui Yun, Cai Wanshi, Wu Honghu, Xiao Xiaoqiang, Shao Qianzhi, Ma Liang, Guo Sen, Wu Nana, Jin Zi-Bing, Wang Yongjin, Cai Tao, Sun Zhong Sheng, Qu Jia
Abstract excerpt
PURPOSE: Genetic etiology of congenital/infantile nystagmus remains largely unknown. This study aimed to identify genomic mutations in patients with infantile nystagmus and an associated disease network. METHODS: Patients with inherited and sporadic infantile nystagmus were recruited for whole-exome and Sanger sequencing. β-Mannosidase activities were measured. Gene expression, protein-protein interaction, and...
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