Article
Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2000
Shu Shi, Li Xiao Ling, Liu Qing, Liu Fang, Cui Bo, Liu Ming Sheng, Cui Li-Ying, Li Xiao Guang, Zhang Xue
Abstract excerpt
TANK-binding kinase 1 (TBK1) has been recently identified as a risk gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the contribution of TBK1 mutations to Chinese ALS patients. We sequenced the coding regions of TBK1 in a cohort of Chinese ALS patients, including 271 sporadic ALS patients and 23 familial ALS patients. Two potentially pathogenic mutations, L62P and I334T, were...
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