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Prothrombin C20209T mutation in deep vein thrombosis: A case report

dc.contributor.authorMuñoz M.
dc.contributor.authorVilos C.
dc.contributor.authorCantín M.
dc.date.accessioned2020-09-02T22:24:05Z
dc.date.available2020-09-02T22:24:05Z
dc.date.issued2015
dc.identifier.citation8, 7, 11225-11229
dc.identifier.issn19405901
dc.identifier.urihttps://hdl.handle.net/20.500.12728/5481
dc.descriptionThrombophilias is a recognized risk factor for thrombotic events. The prothrombin variant G20210A gene mutation has been commonly examined using polymerase chain reaction (PCR). Currently, in many clinical laboratories, performing the PCR in real-time technique, which, in addition to identifying the G20210A mutation, makes possible the detection of other mutations in the 3'UTR of the prothrombin gene by melting curve analysis, due to the ability of this analysis to be amplicon-dependent (e.g., C20209T, C20221T and A20218G). We report the first case in Chile that describes the atypical prothrombin C20209T mutation, in a 50-year-old male patient diagnosed with deep vein thrombosis in the lower limb and family history of thrombophilia. In the literature, there are few studies of the prevalence and functionality of this mutation; its association with thrombotic events is controversial. © 2015 E-Century Publishing Corporation. All rights reserved.
dc.language.isoen
dc.publisherE-Century Publishing Corporation
dc.subject3'Untranslated region
dc.subjectC20209T
dc.subjectMutation
dc.subjectProthrombin
dc.subjectThrombophilia
dc.subjectacenocoumarol
dc.subjectlow molecular weight heparin
dc.subjectprothrombin
dc.subject3' untranslated region
dc.subjectadult
dc.subjectamplicon
dc.subjectArticle
dc.subjectcase report
dc.subjectdeep vein thrombosis
dc.subjectgene frequency
dc.subjectgene mutation
dc.subjectgenetic screening
dc.subjecthuman
dc.subjectmale
dc.subjectmiddle aged
dc.subjectmyalgia
dc.subjectreal time polymerase chain reaction
dc.titleProthrombin C20209T mutation in deep vein thrombosis: A case report
dc.typeArticle


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