Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease, characterized by a great variety of both clinical presentations and genetic causes. Previous studies had identified two different missense mutations in SOD1 (p.R116C and p.R116G) causing familial ALS. In this study,...

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Detalles Bibliográficos
Autores principales: Wen, Xinmei, Zhu, Wenjia, Xia, Nan L., Li, Qianwen, Di, Li, Zhang, Shu, Chen, Hai, Lu, Yan, Wang, Min, Xu, Min, Wang, Suobin, Shen, Xin-Ming, Lu, Jie, Da, Yuwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638083/
https://www.ncbi.nlm.nih.gov/pubmed/34868265
http://dx.doi.org/10.3389/fgene.2021.776831

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