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Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism,...

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Detalles Bibliográficos
Autores principales: Saccon, Rachele A., Bunton-Stasyshyn, Rosie K. A., Fisher, Elizabeth M.C., Fratta, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722346/
https://www.ncbi.nlm.nih.gov/pubmed/23687121
http://dx.doi.org/10.1093/brain/awt097