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High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis

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: Sev...

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Detalles Bibliográficos
Autores principales: Xu, Guo-rong, Hu, Wei, Zhan, Ling-Ling, Wang, Chong, Xu, Liu-Qing, Lin, Min-Ting, Chen, Wan-Jin, Wang, Ning, Zhang, Qi-Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887188/
https://www.ncbi.nlm.nih.gov/pubmed/29621978
http://dx.doi.org/10.1186/s12883-018-1028-1