Publication
Novel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genes
| dc.contributor.author | Alves, Ana Catarina | |
| dc.contributor.author | Menezes, Juliane | |
| dc.date.accessioned | 2021-04-30T14:52:48Z | |
| dc.date.available | 2021-04-30T14:52:48Z | |
| dc.date.issued | 2020-11-26 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7713 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.subject | Functional Characterization | pt_PT |
| dc.subject | LDLR Gene | pt_PT |
| dc.subject | PCSK9 Gene | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Novel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genes | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | BioISI Research Day 2020, 26 November 2020 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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