Factor V Arg306 → Thr (factor V Cambridge) and factor V Arg306 → Gly mutations in venous thrombotic disease

Página do item simplificado
dc.contributor.authorFranco, R. F.
dc.contributor.authorMaffei, Francisco Humberto de Abreu [UNESP]
dc.contributor.authorLourenco, D.
dc.contributor.authorMorelli, V.
dc.contributor.authorThomazini, I. A. [UNESP]
dc.contributor.authorPiccinato, C. E.
dc.contributor.authorTavella, M. H.
dc.contributor.authorZago, M. A.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionFUNDHERP
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2014-05-27T11:19:31Z
dc.date.available2014-05-27T11:19:31Z
dc.date.issued1998-01-01
dc.description.abstractWe investigated the prevalence of two reported mutations of the factor V gene (factor V Arg306 → Thr, or factor V Cambridge, and factor V Arg306 → Gly) in 104 relatively young patients with verified venous thrombosis and in 208 age-, sex- and race-matched controls, in order to establish whether the two mutations are associated with increased predisposition for venous thrombosis. PCR amplification followed by BstNI and MspI digestion was employed to determine the genotypes, and each mutation was confirmed by DNA sequencing. Among the controls, one individual was found to be heterozygous for the factor V Arg306 → Thr mutation and one heterozygous for the factor V Arg306 → Gly mutation; none of the patients carried either mutation. Our findings do not support factor V Cambridge and factor V Arg306 → Gly as risk factors for venous thrombosis.en
dc.description.affiliationDepartment of Clinical Medicine Sch. of Med. of Ribeirão Preto USP, Ribeirão Preto
dc.description.affiliationBlood Centre of Ribeirão Preto FUNDHERP, Ribeirão Preto
dc.description.affiliationDepartment of Vascular Surgery School of Medicine of Botucatu UNESP
dc.description.affiliationDepartment of Clinical Medicine UNIFESP
dc.description.affiliationDepartment of Vascular Surgery Sch. of Med. of Ribeirão Preto USP, Ribeirão Preto
dc.description.affiliationDepartment of Clinical Medicine Sch. of Med. of Ribeirão Preto University of São Paulo, 14048-900 Ribeirão Preto (SP)
dc.description.affiliationUnespDepartment of Vascular Surgery School of Medicine of Botucatu UNESP
dc.format.extent888-890
dc.identifierhttp://dx.doi.org/10.1046/j.1365-2141.1998.01051.x
dc.identifier.citationBritish Journal of Haematology, v. 103, n. 3, p. 888-890, 1998.
dc.identifier.doi10.1046/j.1365-2141.1998.01051.x
dc.identifier.file2-s2.0-0031593697.pdf
dc.identifier.issn0007-1048
dc.identifier.scopus2-s2.0-0031593697
dc.identifier.urihttp://hdl.handle.net/11449/130445
dc.identifier.wosWOS:000077457400047
dc.publisherBlackwell Science
dc.relation.ispartofBritish Journal of Haematology
dc.relation.ispartofjcr5.128
dc.relation.ispartofsjr2,036
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectFactor V Arg306 → Gly
dc.subjectFactor V Arg306 → Thr
dc.subjectRisk factor
dc.subjectThrombophilia
dc.subjectVenous thrombosis
dc.subjectBlood clotting factor 5
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAmino acid substitution
dc.subjectChild
dc.subjectDna sequence
dc.subjectFemale
dc.subjectGene mutation
dc.subjectGenotype
dc.subjectHeterozygosity
dc.subjectHuman
dc.subjectMajor clinical study
dc.subjectMale
dc.subjectPrevalence
dc.subjectPriority journal
dc.subjectVein thrombosis
dc.subjectGenetic predisposition
dc.subjectGenetics
dc.subjectInfant
dc.subjectMiddle aged
dc.subjectMutation
dc.subjectPreschool child
dc.subjectRisk factor
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAmino Acid Substitution
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFactor V
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectRisk Factors
dc.subjectVenous Thrombosis
dc.titleFactor V Arg306 → Thr (factor V Cambridge) and factor V Arg306 → Gly mutations in venous thrombotic diseaseen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderBlackwell Science Ltd
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt

Arquivos

Coleções

Artigos - Cirurgia e Ortopedia - FMB