Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

• Główni autorzy: Fanxi Xu (Autor), Sen Huang (Autor), Xu-Ying Li (Autor), Jianing Lin (Autor), Xiuli Feng (Autor), Shu Xie (Autor), Zhanjun Wang (Autor), Xian Li (Autor), Junge Zhu (Autor), Hong Lai (Autor), Yanming Xu (Autor), Xusheng Huang (Autor), Xiaoli Yao (Autor), Chaodong Wang (Autor)
• Format: Książka
• Wydane: BMC, 2022-08-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract 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. A38...