Article
[Genetic tests in hypertrophic cardiomyopathy: Benefits, limitations, and applications in clinical practice].
Semergen - 1 Oct 2018
Gómez Arraiz I, Barrio Ollero E, Gómez Peligros A
Abstract excerpt
Hypertrophic cardiomyopathy is the most common monogenic heart disease. Its phenotypic expression is quite variable. In up to 60% of the cases, mutations are described in the genes coding for cardiac sarcomer proteins. Massive sequencing of deoxyribonucleic acid makes it possible to discover new genes responsible for the disease, but it has the disadvantage of discovering numerous variants of uncertain...
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