Article
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
Human molecular genetics - 1 Sept 1995
Wang Q, Shen J, Li Z, Timothy K, Vincent G M, Priori S G, Schwartz P J, Keating M T
Abstract excerpt
Long QT syndrome (LQT) is an inherited cardiac disorder that causes syncope, seizures and sudden death from ventricular tachyarrhythmias. We used single-strand conformation polymorphism (SSCP) and DNA sequence analyses to identify mutations in the cardiac sodium channel gene, SCN5A, in affected members of four LQT families. These mutations include two identical intragenic deletions and two missense mutations....
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