Article
Molecular basis of antithrombin deficiency.
Thrombosis and haemostasis - 1 Apr 2011
Luxembourg Beate, Delev Daniel, Geisen Christof, Spannagl Michael, Krause Manuela, Miesbach Wolfgang, Heller Christine, Bergmann Frauke, Schmeink Ursula, Grossmann Ralf, Lindhoff-Last Edelgard, Seifried Erhard, Oldenburg Johannes, Pavlova Anna
Abstract excerpt
Antithrombin (AT) is the most important physiological inhibitor of coagulation proteases. It is activated by glycosaminoglycans such as heparin. Hereditary antithrombin deficiency is a rare disease that is mainly associated with venous thromboembolism. So far, more than 200 different mutations in the antithrombin gene (SERPINC1) have been described. The aim of our study was to characterise the molecular...
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