Medeiros, A.M.Alves, A.C.Bourbon, M.2021-04-302021-04-302020-10http://hdl.handle.net/10400.18/7714Aim: Genetic diagnosis is the only method to correctly identify patients with Familial hypercholesterolemia (FH) but 40%–50% of these individuals do not have a causative variant in LDLR, APOB and PCSK9 genes. In this work, we aim to characterize the genetic background of individuals with FH phenotype.engFamilial HypercholesterolemiaFH phenotypePortuguese PopulationPortugalDoenças Cardio e Cérebro-vascularesconference object