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.

http://hdl.handle.net/10400.18/6421

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Familial 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.

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Familial Hypercholesterolemia Genetic Diagnosis Doenças Cardio e Cérebro-vasculares Hipercolesterolemia Familia

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http://hdl.handle.net/10400.18/6421

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Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

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

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