Document Detail


Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: a case report.
MedLine Citation:
PMID:  23358206     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Type I antithrombin deficiency is an autosomal dominant disorder associated with high risk for venous thromboembolism. Data on the association between antithrombin deficiency and arterial thromboembolism are inconsistent. We report here the case of AT deficiency in a 43-year-old man free of cardiovascular risk factors who experienced venous thromboembolism and ischemic stroke followed by two transient ischemic attacks after interruption of oral anticoagulation due to colonoscopy. DNA sequencing of the antithrombin gene revealed heterozygosity for the previously reported substitution G to A at nucleotide position 9788 in intervening sequence four. To our knowledge, this report is the first to show that this genetic abnormality can be associated with recurrent cerebrovascular ischemic events.
Authors:
Magdalena Szymańska; Martine Alhenc-Gelas; Anetta Undas
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  24     ISSN:  1473-5733     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  213-5     Citation Subset:  IM    
Affiliation:
aThe John Paul II Hospital, Kraków, Poland bHématologie biologique, AP-HP Hôspital Européen G. Pompidou, Paris, France cInstitute of Cardiology, Jagiellonian University Medical College, Kraków, Poland.
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