| dc.contributor.author | Graça, Rafael | |
| dc.date.accessioned | 2019-02-18T17:13:44Z | |
| dc.date.available | 2019-02-18T17:13:44Z | |
| dc.date.issued | 2018-12 | |
| dc.description.abstract | Familial Hypercholesterolemia (FH) is a genetic autosomal dominant disorder characterized clinically by high LDL plasma concentrations from birth causing premature atherosclerosis and coronary heart disease (CHD). The genetic diagnosis is made by finding a functional mutation in one of 3 genes: LDLR (≈90%), APOB (<8%) and PCSK9 (<3%). FH has a frequency between 1/200 and 1/500 for heterozygous and 1/160 000 to 1/1 000 000 for homozygous in most European countries. However, only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. Other concern point is that less than 15% of the LDLR variants found worldwide in patients with FH diagnosis have functional evidence supporting its pathogenicity. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5870 | |
| 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 | Dyslipidaemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Functional genomics in familial dyslipidaemia | pt_PT |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | Palestras do DPSPDNT, INSA, 14 dezembro 2018 | pt_PT |
| rcaap.rights | closedAccess | pt_PT |
| rcaap.type | lecture | pt_PT |
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