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Functional Genomics in a cohort of FH mutation negative patients

2019-05Conference object Restricted access
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dc.contributor.authorRossi, N.
dc.contributor.authorGraça, R.
dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.
dc.contributor.authorZimon, M.
dc.contributor.authorRausch, T.
dc.contributor.authorBenes, V.
dc.contributor.authorPepperkok, R.
dc.contributor.authorBourbon, M.
dc.date.accessioned2019-07-10T10:32:33Z
dc.date.available2019-07-10T10:32:33Z
dc.date.issued2019-05
dc.description.abstractBackground: Clinically, Familial Hypercholesterolaemia (FH) is characterized by high plasma concentrations of total and LDL cholesterol from birth, leading to premature atherosclerosis and coronary heart disease. Currently, the genetic diagnosis is made by finding a functional mutation in one of 3 genes: low-density lipoprotein receptor (LDLR ≈ 90-94%), apolipoprotein B (APOB ≈ 5-9%) and proprotein convertase subtilisin/kexin type 9 (PCSK9 ≈ 1-3%). Problem: Worldwide 50% of clinically diagnosed FH patients lack the identification of a causative mutation to explain their phenotype. Aim: Explore if rare genetic variants in genes involved in monogenic forms of dyslipidaemia can contribute to the FH phenotype.pt_PT
dc.description.sponsorshipWith thanks to the EAS for support in the form of a Young Investigator Fellowship. Rafael Graça acknowledges financial support from FCT (PD/BD/131427/2017).pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6429
dc.language.isoengpt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectCholesterolpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFunctional Genomics in a cohort of FH mutation negative patientspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMaastricht, The Netherlandspt_PT
oaire.citation.title87th EAS Congress, European Atherosclerosis Society, 26-29 May 2019pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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