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Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2018

Zhang Hang, Cai Wanshi, Chen Siyu, Liang Jialong, Wang Zhanjun, Ren Yuting, Liu Wenxiu, Zhang Xiaolan, Sun Zhongsheng, Huang Xusheng

Abstract excerpt

We investigated all coding regions of 17 known amyotrophic lateral sclerosis (ALS)-related genes in 311 sporadic ALS patients who were of Chinese ancestry using next-generation sequencing technology. All nonsynonymous variants identified were confirmed by Sanger sequencing. 29 (9.32%) patients harbored at least one pathogenic or likely pathogenic variants. Nine (2.8%) patients harbored two or three variants which...

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PMID: 29411640
DOI: 10.1080/21678421.2018.1432659

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