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A Common SCN5A Polymorphism Restores the Biophysical Defects of LQT3 Mutations

✍ Scribed by Shinlapawittayatorn, Krekwit; Du, Xi; Liu, Haiyan; Kaufman, Elizabeth S.; Deschenes, Isabelle


Book ID
122285076
Publisher
Biophysical Society
Year
2009
Tongue
English
Weight
40 KB
Volume
96
Category
Article
ISSN
0006-3495

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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