Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing

Russian patients with familial hypercholesterolemia (FH) were screened for pathogenic mutations using targeted next generation sequencing. Genetic testing was performed in 52 probands with definite or probable FH based on the Dutch lipid clinic network criteria (DLCN score ≥6). Blood samples were st...

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Bibliographic Details
Main Authors: Anna E. Semenova, Igor V. Sergienko, Diego García-Giustiniani, Lorenzo Monserrat, Anna B. Popova, Diana N. Nozadze, Marat V. Ezhov
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Journal of Cardiovascular Development and Disease
Subjects:
Online Access:https://www.mdpi.com/2308-3425/7/2/16