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Functional characterization of 16 variants found in the LDL receptor gene

Konečná, Kateřina; Přerovská, Tereza; Loja, Tomáš; Fajkusová, Lenka; Koutná, Jana; Kramárek, Michal; Alves, Ana Catarina; Bourbon, Mafalda

Familial hypercholesterolemia (FH) is a disorder of cholesterol metabolism characterized by elevated LDL-cholesterol levels. The most common cause of FH is pathogenic variants in the LDL receptor (LDLR) gene. To shed light on the functional impact of selected LDLR variants, we functionally characterized 16 LDLR genetic variants alongside 10 control variants. We performed in vitro assays based on transient expre...

Date: 2025   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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