Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype

• Author(s): Medeiros, A.M. ; Alves, A.C. ; Bourbon, M.
• Date: 2020
• Persistent ID: http://hdl.handle.net/10400.18/7714
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial Hypercholesterolemia; FH phenotype; Portuguese Population; Portugal; Doenças Cardio e Cérebro-vasculares
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

Aim: 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.