Article
Characterization of molecular defect of 13387-9delG mutated antithrombin in inherited type I antithrombin deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2005
Wang Wen-Bin, Fu Qi-Hua, Ding Qiu-Lan, Zhou Rong-Fu, Wu Wen-Man, Hu Yi-Qun, Wang Xue-Feng, Yan Li-Xing, Wang Zhen-Yi, Wang Hong-Li
Abstract excerpt
As a major physiological inhibitor of thrombin and other coagulation proteases, antithrombin (AT) plays an important role in the maintenance of normal hemostasis and its deficiency is associated with a predisposition for familial venous thromboembolic disease. Recently, we found a novel mutation (13387-9delG) in the antithrombin gene that is associated with type I AT deficiency. To examine the molecular...
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