Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Database

Ferreira, M.; Chora, J.R.; Medeiros, A.M.; Bourbon, M.; Alves, A.C.

http://hdl.handle.net/10400.18/8689

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Resumo(s)

Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing the variant spectrum of APOB.

Palavras-chave

Familial Hypercholesterolemia Disorder of Lipid Metabolism Doenças Cardio e Cérebro-vasculares Portugal

URI

http://hdl.handle.net/10400.18/8689

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos nacionais

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