SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity. The aim of the study was to analyze the r...

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Detalles Bibliográficos
Autores principales: Berdyński, Mariusz, Miszta, Przemysław, Safranow, Krzysztof, Andersen, Peter M., Morita, Mitsuya, Filipek, Sławomir, Żekanowski, Cezary, Kuźma-Kozakiewicz, Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742055/
https://www.ncbi.nlm.nih.gov/pubmed/34996976
http://dx.doi.org/10.1038/s41598-021-03891-8

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