Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype

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 phenotyp...

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Detalhes bibliográficos
Autor principal: Medeiros, A.M. (author)
Outros Autores: Alves, A.C. (author), Bourbon, M. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2021
Assuntos:
Familial Hypercholesterolemia
FH phenotype
Portuguese Population
Portugal
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/7714
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7714
Descrição
Resumo: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.

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