Article
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.
Croatian medical journal - 1 Jun 2011
Capek Pavel, Vondrasek Jiri, Skvor Jiri, Brdicka Radim
Abstract excerpt
AIM: To analyze the genesis of hypertrophic cardiomyopathy on a large cohort of patients from molecular genetics point of view and perform the functional analysis of the 3D molecular model of defective myosin-7 protein in silico. METHODS: The study enrolled 153 patients with diagnosed hypertrophic cardiomyopathy from different parts of the Czech Republic. DNA samples were analyzed for mutations in exons 21 and 22...
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