Associated Papers
Clinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.
Chongxia Z et al.
Thrombosis Journal, 2025
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.
Wang HL et al.
Thrombosis Journal, 2023
Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type Ⅰ hereditary antithrombin deficiency.
Zhang F et al.
Clinical Biochemistry, 2020
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