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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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Pubblicato in:Iran J Neurol
Autori principali: Khani, Marzieh, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe
Natura: Artigo
Lingua:Inglês
Pubblicazione: Tehran University of Medical Sciences 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4662688/
https://ncbi.nlm.nih.gov/pubmed/26622980
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