A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.

Abstract excerpt

BACKGROUND: Congenital antithrombin (AT) deficiency, primarily caused by variants in SERPINC1, is associated with a high risk of venous thromboembolism. Existing diagnostic procedures, mainly based on functional assays, may miss certain pathogenic variants. OBJECTIVES: To comprehensively evaluate AT deficiency prevalence in the Chinese thrombophilia population and identify SERPINC1 variants overlooked by...

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