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

Alves, Ana CatarinaMenezes, Juliane2021-04-302021-04-302020-11-26http://hdl.handle.net/10400.18/7713AiM: 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.engFamilial HypercholesterolaemiaFunctional CharacterizationLDLR GenePCSK9 GeneDoenças Cardio e Cérebro-vascularesNovel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genesconference object