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

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 G...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356425/
https://www.ncbi.nlm.nih.gov/pubmed/35932023
http://dx.doi.org/10.1186/s12920-022-01327-4