Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy


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ATAY S. , TETIK A., CETINTAS V. , TULUCE S. Y. , TULUCE K., KAYIKCIOGLU M., ...Daha Fazla

ANATOLIAN JOURNAL OF CARDIOLOGY, cilt.14, ss.244-250, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 14 Konu: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.5152/akd.2014.4730
  • Dergi Adı: ANATOLIAN JOURNAL OF CARDIOLOGY
  • Sayfa Sayıları: ss.244-250

Özet

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.