Article
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.
BMC medical genomics - 5 Aug 2022
Xu Fanxi, Huang Sen, Li Xu-Ying, Lin Jianing, Feng Xiuli, Xie Shu, Wang Zhanjun, Li Xian, Zhu Junge, Lai Hong, Xu Yanming, Huang Xusheng, Yao Xiaoli, Wang Chaodong
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G294V, have genetic founder effects in certain geographic regions. However, such prevalence and founder effect have...
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