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Publicação
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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Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Familial Hypercholesterolemia Genetic Diagnosis Doenças Cardio e Cérebro-vasculares Hipercolesterolemia Familia
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP