Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Chora, J.R.Medeiros, A.M.Alves, A.C.Bourbon, M.2019-06-192019-06-192019-02http://hdl.handle.net/10400.18/6421Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk.engFamilial HypercholesterolemiaGenetic DiagnosisDoenças Cardio e Cérebro-vascularesHipercolesterolemia FamiliaAnalysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosisconference object