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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Authors

Medeiros, A.M.

Alves, A.C.

Bourbon, M.

Abstract(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.