Publication
Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Etxebarria, A. | |
| dc.contributor.author | Martin, C. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2013-06-25T11:30:15Z | |
| dc.date.available | 2013-06-25T11:30:15Z | |
| dc.date.issued | 2013-06 | |
| dc.description.abstract | Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pathogenicity of five missense LDLR variants by in vitro functional assays and 3 of them severely impaired receptor function. Here we present a novel functional characterization of five LDLR variants (p.Gly76Trp, p.Ala431Thr, p.Gly478Arg, p.Cys698Phe, c.-13A>G) found in Portuguese FH patients, two of them (p.Ala431Thr, p.Gly478Arg) previously described as pathogenic and used as control. | por |
| dc.description.sponsorship | Ana Margarida Medeiros was funded by BRJ-DPS/2012; Ana Catarina Alves was funded by FCT SFRH / BD / 27990 / 2006; project grant FCT_PTDC/SAU-GMG/101874/2008. EAS Lyon May 2013 | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1636 | |
| dc.language.iso | eng | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Doenças Cardio e Cérebro-vasculares | por |
| dc.title | Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lyon, França | por |
| oaire.citation.title | 81st EAS-European Atherosclerosis Society Congress, 2-5 june 2013 | por |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | conferenceObject | por |
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