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In vitro functional characterization of missense mutations in the LDLR gene

2012-08-10Journal article Restricted access
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dc.contributor.authorSilva, S.
dc.contributor.authorAlves, A.C.
dc.contributor.authorPatel, D.
dc.contributor.authorMalhó, R.
dc.contributor.authorSoutar, A.K.
dc.contributor.authorBourbon, M.
dc.date.accessioned2012-10-25T11:45:44Z
dc.date.available2012-10-25T11:45:44Z
dc.date.issued2012-08-10
dc.description.abstractMutations in the LDL receptor gene are the major cause of familial hypercholesterolaemia (FH) but it has been previously shown that the simple finding of a variation in the coding sequence of the LDLR does not confirm that it is the actual cause of FH. The pathogenicity of five missense alterations in the LDLR gene coding sequence found in a previous epidemiologic study was investigated.por
dc.identifier.citationAtherosclerosis. 2012 Nov;225(1):128-34. Epub 2012 Aug 20.por
dc.identifier.issn0021-9150
dc.identifier.otherdoi: 10.1016/j.atherosclerosis.2012.08.017.
dc.identifier.urihttp://hdl.handle.net/10400.18/1075
dc.language.isoengpor
dc.publisherElsevierpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0021915012005667por
dc.subjectFamilial Hypercholesterolaemiapor
dc.subjectStably Transfection of CHO-ldlA7 Cellspor
dc.subjectImpaired Receptor Functionpor
dc.subjectFunctional Studiespor
dc.subjectPredicted Analysispor
dc.subjectDoenças Cardio e Cérebro-vascularespor
dc.titleIn vitro functional characterization of missense mutations in the LDLR genepor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage134por
oaire.citation.startPage128por
oaire.citation.volume225por
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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