A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease.

• We identified a novel SERPINC1 gene mutation (c.1A>G p.Met1Val). • The p.Met1Val mutation is associated with significantly lower antithrombin levels and an increased risk of early venous thromboembolism. • Heparin therapy may be ineffective for venous thromboembolism caused by p.Met1Val mutation of SERPINC1 gene. • Novel oral anticoagulants may have favorable anticoagulant effects. [ABSTRACT FROM AUTHOR]