Article
Antithrombin Krakow II (c.624+1 G > T): a novel mutation leading to type 1 antithrombin deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2012
Celinska-Löwenhoff Magdalena, Iwaniec Teresa, Alhenc-Gelas Martine, Musial Jacek, Undas Anetta
Abstract excerpt
Hereditary antithrombin (AT) deficiency is a rare autosomal disease. More than 200 mutations have been described in the AT gene leading to its deficiency. We describe here a case of type I AT deficiency in a 26-year-old Polish man who experienced proximal deep vein thrombosis and pulmonary embolism associated with a transient thrombotic risk factor, the right ankle trauma, despite the use of low-molecular-weight...
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