Article
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Circulation. Arrhythmia and electrophysiology - 1 Aug 2009
Yang Tao, Chung Seo-Kyung, Zhang Wei, Mullins Jonathan G L, McCulley Caroline H, Crawford Jackie, MacCormick Judith, Eddy Carey-Anne, Shelling Andrew N, French John K, Yang Ping, Skinner Jonathan R, Roden Dan M, Rees Mark I
Abstract excerpt
BACKGROUND: Inherited long-QT syndrome is characterized by prolonged QT interval on the ECG, syncope, and sudden death caused by ventricular arrhythmia. Causative mutations occur mostly in cardiac potassium and sodium channel subunit genes. Confidence in mutation pathogenicity is usually reached through family genotype-phenotype tracking, control population studies, molecular modeling, and phylogenetic...
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