Article
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Journal of medical genetics - 1 Aug 2011
Fokstuen Siv, Munoz Analia, Melacini Paola, Iliceto Sabino, Perrot Andreas, Ozcelik Cemil, Jeanrenaud Xavier, Rieubland Claudine, Farr Martin, Faber Lothar, Sigwart Ulrich, Mach François, Lerch René, Antonarakis Stylianos E, Blouin Jean-Louis
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming,...
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