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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleAntithrombin deficiency in Brazilian patients with venous thrombosis molecular characterization of a single splice site mutation, an insertion and a de novo point mutationpt_BR
dc.contributor.authorArnaldi, LATpt_BR
dc.contributor.authorPretti, FApt_BR
dc.contributor.authorZampieri, JPpt_BR
dc.contributor.authorRamos, CFpt_BR
dc.contributor.authorArruda, VRpt_BR
dc.contributor.authorAnnichino-Bizzacchi, JMpt_BR
unicamp.authorUNICAMP, State Univ Campinas, Hematol Hemotherapy Ctr, BR-13081970 Campinas, SP, Brazil Fed Univ Espirito Santo, Discipline Hematol, Vitoria, ES, Brazil Hosp Heliopolis, Hematol Serv, Sao Paulo, Brazil Univ Penn, Sch Med, Penn Med Ctr, Philadelphia, PA 19104 USApt_BR
dc.subjectantithrombinpt_BR
dc.subjectvenous thrombosispt_BR
dc.subjectmutationpt_BR
dc.subjectprevalencept_BR
dc.subjectBrazilianpt_BR
dc.subject.wosFactor-v-leidenpt_BR
dc.subject.wosRapid Detectionpt_BR
dc.subject.wosProtein-cpt_BR
dc.subject.wosGenept_BR
dc.subject.wosThrombophiliapt_BR
dc.subject.wosPolymorphismpt_BR
dc.subject.wosInhibitorspt_BR
dc.subject.wosFamiliespt_BR
dc.description.abstractThe prevalence of antithrombin (AT) deficiency in 342 unselected Brazilian patients with venous thrombosis was 1.16%, which increased to 3% when only patients under the age of 50 or with a familial history of thrombosis were considered. In two patients, a clinical (contraceptive use) or genetic risk factor (factor V Leiden and C677T in the methylene tetrahydrofolate reductase gene [MTHFR]) was identified and corroborated the hypothesis that an interaction of factors accounted for the appearance of thrombosis. However, no risk factor other than AT deficiency was identified in one patient with an important clinical and family history of spontaneous thrombosis. Three mutations were identified in these patients: a G --> A transition in intron 5 at position + 1 (5' --> 3'), three base insertions corresponding to arginine at position 5383 in exon 3A, and a G --> A transition at 13328, corresponding to an Ala404Thr de novo mutation. The polymorphisms in the genes coding for coagulation factors XII and XlII and fibrinogen normally associated with an increased risk for venous thrombosis were not related to thrombosis in these patients. This is the first study in South America to assess the prevalence of AT deficiency and to report the molecular characterization of the mutations involved. (C) 2001 Elsevier Science Ltd. All rights reserved.pt
dc.relation.ispartofThrombosis Researchpt_BR
dc.relation.ispartofabbreviationThromb. Res.pt_BR
dc.publisher.cityOxfordpt_BR
dc.publisher.countryInglaterrapt_BR
dc.publisherPergamon-elsevier Science Ltdpt_BR
dc.date.issued2001pt_BR
dc.date.monthofcirculationDEC 15pt_BR
dc.identifier.citationThrombosis Research. Pergamon-elsevier Science Ltd, v. 104, n. 6, n. 397, n. 403, 2001.pt_BR
dc.language.isoenpt_BR
dc.description.volume104pt_BR
dc.description.issuenumber6pt_BR
dc.description.firstpage397pt_BR
dc.description.lastpage403pt_BR
dc.rightsfechadopt_BR
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policypt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn0049-3848pt_BR
dc.identifier.wosidWOS:000173129000004pt_BR
dc.identifier.doi10.1016/S0049-3848(01)00390-5pt_BR
dc.date.available2014-11-16T04:17:11Z
dc.date.available2015-11-26T17:23:10Z-
dc.date.accessioned2014-11-16T04:17:11Z
dc.date.accessioned2015-11-26T17:23:10Z-
dc.description.provenanceMade available in DSpace on 2014-11-16T04:17:11Z (GMT). No. of bitstreams: 1 WOS000173129000004.pdf: 220474 bytes, checksum: 332d831779093ef0dfb6ee6b1c4ce9bc (MD5) Previous issue date: 2001en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:23:10Z (GMT). No. of bitstreams: 2 WOS000173129000004.pdf: 220474 bytes, checksum: 332d831779093ef0dfb6ee6b1c4ce9bc (MD5) WOS000173129000004.pdf.txt: 25215 bytes, checksum: fdbda52541c2df27ef99144fd282c43b (MD5) Previous issue date: 2001en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/54691pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/54691
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/54691-
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