Publication
Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2021-04-30T15:09:28Z | |
| dc.date.available | 2021-04-30T15:09:28Z | |
| dc.date.issued | 2020-11 | |
| dc.description.abstract | Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 genes: LDLR, APOB, PCSK9; Recently, 5 genes have been associated with FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants in those genes have been identified in clinical FH patients. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7717 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Portuguese FH Study | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | (online) | pt_PT |
| oaire.citation.title | 24th Annual Meeting of the Portuguese Society of Human Genetics, 20 November 20 2020 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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