Article
[Antithrombin homozygous type II HBS deficiency (99Leu-Phe) associated with recurrent arterial thrombosis].
La Revue de medecine interne - 1 Mar 2011
Durant C, Ternisien C, Connault J, Saint-Jean M, Planchon B
Abstract excerpt
Antithrombin (AT) is a natural anticoagulant and serine protease inhibitor. Hereditary AT deficiencies are uncommon and are associated with a higher risk of venous thrombo-embolism (VTE) compared to other thrombophilias. They are either quantitative (type I) or qualitative (type II) and various mutations have been reported. The II HBS deficiency is caused by a defect in the heparin-binding region (HBS) of AT....
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