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

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorFranco, R. F.
dc.creatorMaffei, Francisco Humberto de Abreu
dc.creatorLourenco, D.
dc.creatorMorelli, V.
dc.creatorThomazini, I. A.
dc.creatorPiccinato, C. E.
dc.creatorTavella, M. H.
dc.creatorZago, M. A.
dc.date2014-05-27T11:19:31Z
dc.date2016-10-25T21:21:11Z
dc.date2014-05-27T11:19:31Z
dc.date2016-10-25T21:21:11Z
dc.date1998-01-01
dc.date.accessioned2017-04-06T09:21:59Z
dc.date.available2017-04-06T09:21:59Z
dc.identifierBritish Journal of Haematology, v. 103, n. 3, p. 888-890, 1998.
dc.identifier0007-1048
dc.identifierhttp://hdl.handle.net/11449/130445
dc.identifierhttp://acervodigital.unesp.br/handle/11449/130445
dc.identifier10.1046/j.1365-2141.1998.01051.x
dc.identifierWOS:000077457400047
dc.identifier2-s2.0-0031593697.pdf
dc.identifier2-s2.0-0031593697
dc.identifierhttp://dx.doi.org/10.1046/j.1365-2141.1998.01051.x
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/940988
dc.descriptionWe 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.
dc.publisherBlackwell Science
dc.relationBritish Journal of Haematology
dc.rightsinfo:eu-repo/semantics/openAccess
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 disease
dc.typeOtro


Este ítem pertenece a la siguiente institución