Article
Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy.
Anadolu kardiyoloji dergisi : AKD = the Anatolian journal of cardiology - 1 May 2014
Atay Sevcan, Tetik Aslı, Bozok Çetintaş Vildan, Yakar Tülüce Selcen, Tülüce Kamil, Kayıkçıoğlu Meral, Eroğlu Zuhal
Abstract excerpt
OBJECTIVE: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM. METHODS:...
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