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Functional characterization of 2 news variants in the APOB gene

2017-11Conference object Restricted access
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dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorEtxebarria, A.
dc.contributor.authorBenito-Vicente, A.
dc.contributor.authorMartin, C.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2018-03-05T16:12:57Z
dc.date.available2018-03-05T16:12:57Z
dc.date.issued2017-11
dc.descriptionProject grant FCT_PTDC/SAU-GMG/101874/2008; Ana Catarina Alves was funded by FCT SFRH/BD/27990/2006 and FCT_PTDC/SAU-GMG/101874/2008.pt_PT
dc.description.abstractFamilial hypercholesterolaemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Loss of function mutations in LDLR and APOB and also gain of function mutations in PCSK9 have been associated with FH, but mutations in LDLR are the most common cause of FH. Until 2012 only mutations in two small fragments of exon 26 and 29 were described as causing FH. However with Next Generation Sequencing techniques others alterations in fragments not studied in routine diagnosis are being found and need to be functional characterized. In the past years 5 new functional mutations have been described in APOB fragments not routinely studied and our group characterized 2/5 as causing FHpt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5165
dc.language.isoengpt_PT
dc.relationNovel genes causing Familial Hypercholesterolaemia
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectCholesterolpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFunctional characterization of 2 news variants in the APOB genept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleNovel genes causing Familial Hypercholesterolaemia
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F27990%2F2006/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT
oaire.citation.conferencePlaceCaparica, Portugalpt_PT
oaire.citation.title21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 novembro 2017pt_PT
oaire.fundingStreamSFRH
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublication8dc5d1a0-78e3-4b85-a365-0602072ae4f5
relation.isProjectOfPublicationf2cced4d-dbf7-43c7-98a7-a370b6dbb952
relation.isProjectOfPublication.latestForDiscoveryf2cced4d-dbf7-43c7-98a7-a370b6dbb952

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