Publication
Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Database
| dc.contributor.author | Ferreira, M. | |
| dc.contributor.author | Chora, J.R. | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Bourbon, M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.date.accessioned | 2023-10-10T14:58:09Z | |
| dc.date.available | 2023-10-10T14:58:09Z | |
| dc.date.issued | 2022-11-08 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.sponsorship | Maria Simões Ferreira was fundedby“BioISI-Instituto de Biossistemas e Ciências Integrativas –UI&D 04046 -apoio especial Verão com Ciência 2022“ | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8689 | |
| 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 | Disorder of Lipid Metabolism | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Portugal | |
| dc.title | Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Database | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | Dia do Jovem Investigador 2022, INSA, 8 novembro 2022 | pt_PT |
| rcaap.rights | closedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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