Publicação
Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2021-04-30T14:55:54Z | |
| dc.date.available | 2021-04-30T14:55:54Z | |
| dc.date.issued | 2020-10 | |
| dc.description.abstract | Aim: Genetic diagnosis is the only method to correctly identify patients with Familial hypercholesterolemia (FH) but 40%–50% of these individuals do not have a causative variant in LDLR, APOB and PCSK9 genes. In this work, we aim to characterize the genetic background of individuals with FH phenotype. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7714 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | FH phenotype | pt_PT |
| dc.subject | Portuguese Population | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | (online) | pt_PT |
| oaire.citation.title | 88th European Atherosclerosis Society Congress, October 4-7, 2020 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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