Article
High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.
BMC neurology - 5 Apr 2018
Xu Guo-Rong, Hu Wei, Zhan Ling-Ling, Wang Chong, Xu Liu-Qing, Lin Min-Ting, Chen Wan-Jin, Wang Ning, Zhang Qi-Jie
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by substantial clinical and genetic heterogeneity. Thus far, only a few TARDBP-ALS families have been reported in China, and no mutation analysis has been reported in south-eastern China. METHODS: Seven index cases from ALS families negative for SOD1 and FUS mutations were screened by Sanger sequencing for TARDBP...
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