Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype

Medeiros, A.M.; Alves, A.C.; Bourbon, M.

http://hdl.handle.net/10400.18/7714

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Autores

Medeiros, A.M.

Alves, A.C.

Bourbon, M.

Resumo(s)

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.

Palavras-chave

Familial Hypercholesterolemia FH phenotype Portuguese Population Portugal Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/7714

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

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