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Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation

Background: Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disorder in European populations. ALS can be sporadic ALS (SALS) or familial ALS (FALS). Among 20 known ALS genes, mutations in C9orf72 and superoxide dismutase 1 (SOD1) are the most common genetic causes of the disease....

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Detalles Bibliográficos
Autores principales: Khani, Marzieh, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662688/
https://www.ncbi.nlm.nih.gov/pubmed/26622980