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A novel mutation in SCN5A, delQKP 1507–1509, causing long QT syndrome:: Role of Q1507 residue in sodium channel inactivation

✍ Scribed by Dagmar I. Keller; Said Acharfi; Etienne Delacrétaz; Nawal Benammar; Martin Rotter; Jean-Pierre Pfammatter; Véronique Fressart; Pascale Guicheney; Mohamed Chahine


Book ID
116983384
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
911 KB
Volume
35
Category
Article
ISSN
0022-2828

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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