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Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome

✍ Scribed by Detta, Nicola; Frisso, Giulia; Zullo, Alberto; Sarubbi, Berardo; Cozzolino, Carla; Romeo, Emanuele; Wang, Dao W.; Calabrò, Raffaele; Salvatore, Francesco; George, Alfred L.


Book ID
122579909
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
472 KB
Volume
165
Category
Article
ISSN
0167-5273

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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