Article
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
Heart rhythm - 1 Nov 2004
Ackerman Michael J, Splawski Igor, Makielski Jonathan C, Tester David J, Will Melissa L, Timothy Katherine W, Keating Mark T, Jones Gregg, Chadha Monica, Burrow Christopher R, Stephens J Claiborne, Xu Chuanbo, Judson Richard, Curran Mark E
Abstract excerpt
OBJECTIVES: The purpose of this study was to determine the prevalence and spectrum of nonsynonymous polymorphisms (amino acid variants) in the cardiac sodium channel among healthy subjects. BACKGROUND: Pathogenic mutations in the cardiac sodium channel gene, SCN5A, cause approximately 15 to 20% of Brugada syndrome (BrS1), 5 to 10% of long QT syndrome (LQT3), and 2 to 5% of sudden infant death syndrome. METHODS:...
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