Article
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.
The Canadian journal of cardiology - 1 Feb 2008
Tanjore Reena R, Rangaraju Advithi, Kerkar P G, Calambur Narsimhan, Nallari Pratibha
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a complex cardiac muscular disorder, inherited as an autosomal dominant disease with variable penetrance. Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle. One hundred forty-seven mutations have been detected in MYBPC3, accounting for 15% of all HCM cases. OBJECTIVE: To screen exons 16, 18, 19, 22, 24,...
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