Publication
Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Azevedo, S. | |
| dc.contributor.author | Benito-Vicente, A. | |
| dc.contributor.author | Etxebarria, A. | |
| dc.contributor.author | Barros, P. | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Martín, C. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2018-03-05T16:46:44Z | |
| dc.date.available | 2018-03-05T16:46:44Z | |
| dc.date.issued | 2017-10 | |
| dc.description.abstract | Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them remain without functional characterization. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 123 LDLR alterations were found in 243 index patients and their relatives up to date. Until now, 70 of these alterations already have a final classification of pathogenic and 15 have been proved by in vitro studies to be non-pathogenic. The aim of the present work was to functionally characterize the 16 most common LDLR alterations in our cohort without functional characterization found in Portuguese patients and worldwide. | pt_PT |
| dc.description.sponsorship | Project grant FCT_PTDC/SAU-GMG/101874/2008; Ana Catarina Alves was funded by FCT_PTDC/SAU-GMG/101874/2008. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5172 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.relation | Novel genes causing Familial Hypercholesterolaemia | |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Genómica Funcional e Estrutural | |
| dc.subject | Portugal | |
| dc.title | Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Novel genes causing Familial Hypercholesterolaemia | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT | |
| oaire.citation.conferencePlace | Buenos Aires, Argentina | pt_PT |
| oaire.citation.title | V Simposio de la Red Iberoamericana de Hipercolesterolemia Familiar, 18-19 outubro 2017 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 | |
| relation.isProjectOfPublication.latestForDiscovery | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 |