Genetic spectrum in Latvian patients with familial hypercholesterolemia: First data from a whole genome sequencing study

Background and Aims: Familial hypercholesterolemia (FH) is an autosomal semi-dominant disease associated with pathogenic (P) or likely pathogenic (LP) variants in LDLR, APOB and PCSK9 genes. Here we report the first results of the detection rate of monogenic variants in FH patients in Latvia.

Source: Atherosclerosis - August 1, 2023 Category: Cardiology Authors: G. Latkovskis, R. Rescenko, G. Nesterovics, M. Briviba, V. Saripo, D. Gilis, R. Meiere, E. Terauda, G. Skudrina, A. Erglis, J. Chora, M. Bourbon, J. Klovins Source Type: research