4bases’Paper of the month – July -2023 – Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
July 4, 2023
Familial hypercholesterolemia (FH) is a genetically inherited disease characterized by high blood levels of total cholesterol and LDL cholesterol (Low-Density Lipoprotein, often referred to as