Publication
Extended next-generation sequencing panel for Familial Hypercholesterolemia
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2021-11-11T16:14:12Z | |
| dc.date.available | 2021-11-11T16:14:12Z | |
| dc.date.issued | 2021-05 | |
| dc.description.abstract | Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9. Recently, other 5 genes have been associated with the FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants have been identified in clinical FH patients. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7810 | |
| 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 | Cholesterol | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Colesterol | pt_PT |
| dc.title | Extended next-generation sequencing panel for Familial Hypercholesterolemia | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | (online) | pt_PT |
| oaire.citation.title | 5th Curating the Clinical Genome conference, 12-14 maio 2021 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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