𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

✍ Scribed by Adriano Chiò; Andrea Calvo; Cristina Moglia; Irene Ossola; Maura Brunetti; Luca Sbaiz; Shiao-lin Lai; Yevgeniya Abramzon; Bryan J. Traynor; Gabriella Restagno

Book ID
116781620
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
529 KB
Volume
32
Category
Article
ISSN
0197-4580

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo truncating FUS gene mutation as
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
✍ 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

A de novo missense mutation (R1623Q) of
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome
✍ Hiroyuki Yamagishi; Michiko Furutani; Mitsuhiro Kamisago; Yoshiyuki Morikawa; Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c