Article
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Circulation - 30 Aug 2005
Crotti Lia, Lundquist Andrew L, Insolia Roberto, Pedrazzini Matteo, Ferrandi Chiara, De Ferrari Gaetano M, Vicentini Alessandro, Yang Ping, Roden Dan M, George Alfred L, Schwartz Peter J
Abstract excerpt
BACKGROUND: Clinical heterogeneity among patients with long-QT syndrome (LQTS) sharing the same disease-causing mutation is usually attributed to variable penetrance. One potential explanation for this phenomenon is the coexistence of modifier gene alleles, possibly common single nucleotide polymorphisms, altering arrhythmia susceptibility. We demonstrate this concept in a family segregating a novel,...
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