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A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

✍ Scribed by Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Barberis, Marco; Traynor, Bryan J.; Carrara, Giovanna; Valentini, Consuelo; Restagno, Gabriella; Chiò, Adriano


Book ID
122251305
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
553 KB
Volume
35
Category
Article
ISSN
0197-4580

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✍ Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Bak 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 441 KB 👁 1 views

Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadi