Article
Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.
BioMed research international - 1 Jan 2015
Khodyuchenko Tatiana, Zlotina Anna, Pervunina Tatiana, Zverev Dmitry, Malashicheva Anna, Kostareva Anna
Abstract excerpt
BACKGROUND: Congenital heart defects (CHDs) often have genetic background due to missense mutations in cardiomyocyte-specific genes. For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (PDA). In the present study, we further searched for mutations in human α-cardiac...
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