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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

2019-07-25Journal article Restricted access
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dc.contributor.authorTavares, Isabel
dc.contributor.authorOliveira, Márcia E.
dc.contributor.authorMaia, Nuno
dc.contributor.authorMoreira, Luciana
dc.contributor.authorCastro Lacerda, Pedro
dc.contributor.authorSantos, Josefina
dc.contributor.authorSantos, Rosário
dc.contributor.authorPinho Costa, Paulo
dc.contributor.authorLobato, Luísa
dc.date.accessioned2020-05-07T18:19:41Z
dc.date.available2020-05-07T18:19:41Z
dc.date.issued2019-07-25
dc.description.abstractBackground: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain gene (FGA) [2,3], the c.1634A > T (p.Glu545Val) mutation (rs121909612) is the most common and, so far, the only one identified in Portugal. A first study using three common polymorphisms showed a single haplotype, associated with the FGA p.Glu545Val mutation in Irish–American and Polish–Canadian kindreds [4]. However, the origin of this amyloidogenic variant in diverse regions and its migration in the different populations are still unclear. Therefore, we proceeded to a preliminary study using two FGA haplotype markers in newly identified Portuguese and Brazilian carriers to investigate the possibility of a common ancestor.pt_PT
dc.description.sponsorshipDe acordo com política editorial da revista.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAmyloid . 2019;26(sup1):144-145. doi: 10.1080/13506129.2019.1582500. Epub 2019 Jul 25pt_PT
dc.identifier.doi10.1080/13506129.2019.1582500pt_PT
dc.identifier.issn1350-6129
dc.identifier.urihttp://hdl.handle.net/10400.18/6609
dc.language.isoengpt_PT
dc.publisherTaylor & Francispt_PT
dc.relation.publisherversionhttps://www.tandfonline.com/doi/full/10.1080/13506129.2019.1582500pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectAmino Acid Substitutionpt_PT
dc.subjectAmyloidosispt_PT
dc.subjectBrazilpt_PT
dc.subjectFemalept_PT
dc.subjectFibrinogenpt_PT
dc.subjectHumanspt_PT
dc.subjectMalept_PT
dc.subjectPortugalpt_PT
dc.subjectFamilypt_PT
dc.subjectHaplotypespt_PT
dc.subjectMutation, Missensept_PT
dc.subjectPolymorphism, Geneticpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleHaplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variantpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage145pt_PT
oaire.citation.issuesup1pt_PT
oaire.citation.startPage144pt_PT
oaire.citation.titleAmyloidpt_PT
oaire.citation.volume26pt_PT
rcaap.embargofctThis work was supported by Sociedade Portuguesa de Nefrologia.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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