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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Bibliographic Details
Main Author: Medeiros, A.M. (author)
Other Authors: Alves, A.C. (author), Bourbon, M. (author)
Format: conferenceObject
Language:eng
Published: 2021
Subjects:
Online Access:http://hdl.handle.net/10400.18/7714
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7714