Article
Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.
Neurobiology of aging - 1 Jan 2021
Yang Lu, Cheng Yanfei, Jia Xinmiao, Liu Xudong, Li Xiuli, Zhang Kang, Shen Dongchao, Liu Mingsheng, Guan Yuzhou, Liu Qing, Cui Liying, Li Xiaoguang
Abstract excerpt
This study was to investigate the genetic contribution of optineurin (OPTN), a gene associated with primary open-angle glaucoma and amyotrophic lateral sclerosis (ALS), in Chinese patients with ALS. To gain additional insight into the spectrum and pathogenic relevance of this gene for ALS, we sequenced all the coding exons of OPTN and intron-exon boundaries in 398 patients with ALS [33 familial ALS (FALS), 365...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.