Novel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genes

Alves, Ana Catarina; Menezes, Juliane

http://hdl.handle.net/10400.18/7713

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Autores

Alves, Ana Catarina

Menezes, Juliane

Resumo(s)

AiM: To define the 5’UTR and promoter regions of the PCSK9 gene, as well as, to perform an in vitro characterization of variants in LDLR and PCSK9 genes in the regulatory regions mentioned above. This project will also contribute to an accurate identification of FH patients allowing for a better patient management.

Palavras-chave

Familial Hypercholesterolaemia Functional Characterization LDLR Gene PCSK9 Gene Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/7713

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Apresentações orais em reuniões nacionais

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