A de novo nonsense mutation of the FUS gene in an apparently familial ALS case

Mutations in C9ORF72, SOD1, TARDBP and FUS genes account for approximately two third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) in...

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Autori principali: Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Barberis, Marco, Traynor, Bryan J., Carrara, Giovanna, Valentini, Consuelo, Restagno, Gabriella, Chiò, Adriano
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3961545/
https://ncbi.nlm.nih.gov/pubmed/24439481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.12.028
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