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SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

✍ Scribed by PÄIVI J. LAITINEN-FORSBLOM; PEKKA MÄKYNEN; HEIKKI MÄKYNEN; SINIKKA YLI-MÄYRY; VESA VIRTANEN; KIMMO KONTULA; KATRIINA AALTO-SETÄLÄ


Book ID
109207432
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
236 KB
Volume
17
Category
Article
ISSN
1540-8167

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A Novel mutation L619F in the cardiac Na
✍ Xander H.T. Wehrens; Tom Rossenbacker; Roselie J. Jongbloed; Marc Gewillig; Hein 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB

Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). Functional studies of SCN5A mutations in the linker between domains III and IV, and more recently the C-terminus, have been shown to alter inactivation