Article
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.
Molecular genetics & genomic medicine - 1 Nov 2021
Filatova Elena V, Krylova Natalia S, Vlasov Ivan N, Maslova Maria S, Poteshkina Natalia G, Slominsky Petr A, Shadrina Maria I
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance. However, pathogenic alleles are not identified in at least 25% of patients with HCM, and the spectrum of pathogenic variants that contribute to the development of HCM in Russia has not been...
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