Publication
Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 Update
| dc.contributor.author | Azevedo, S. | |
| dc.contributor.author | Chora, J.R | |
| dc.contributor.author | Alves, A.C | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2016-06-21T15:25:47Z | |
| dc.date.available | 2018-01-01T01:30:11Z | |
| dc.date.issued | 2016-05 | |
| dc.description.abstract | Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, caused by mutations in LDLR, APOB and PCSK 9 genes. Although it is described that over 1700 variants have been found, none of the existing databases are completely updated. The aim of this work is to construct a FH database in order to provide a unique source of verified information about variants associated with FH for a more accurate genetic diagnosis. | pt_PT |
| dc.description.sponsorship | JR Chora was funded by FCT: SFRH/BD/108503/2015; AM Medeiros was funded by FCT: SFRH/BD/113017/2015. This project was funded by Gendiag. | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3847 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.title | Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 Update | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Innsbruck, Austria | pt_PT |
| oaire.citation.title | 84th Congress of the European Atherosclerosis Society (EAS 2016), May 29-1June 2016 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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