A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis.

Abstract excerpt

: Inherited antithrombin deficiency (OMIM 107300) is a rare autosomal dominant disorder that could increase the risk of venous thromboembolism and is usually caused by mutations of SERPINC1. Herein, we present a case of a novel mutation in the SERPINC1 gene in a Chinese patient. The patient was a 54-year-old man who presented with recurrent venous thromboembolism and was without a recent history of any...

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