Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel

Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 g...

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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:
Portuguese FH Study
Familial Hypercholesterolemia
Portugal
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/7717
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7717
Description
Summary:Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 genes: LDLR, APOB, PCSK9; Recently, 5 genes have been associated with FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants in those genes have been identified in clinical FH patients.

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