Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

Abstract Background Antithrombin (AT) is the main physiological anticoagulant involved in hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease mainly caused by mutations in SERPINC1, which was usually manifested as venous thrombosis and pulmonary embolism. In this stu...

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Bibliographic Details
Main Authors: Han-lu Wang, Dan-dan Ruan, Min Wu, Yuan-yuan Ji, Xing-xing Hu, Qiu-yan Wu, Yan-ping Zhang, Bin Lin, Ya-nan Hu, Hang Wang, Yi Tang, Zhu-ting Fang, Jie-wei Luo, Li-sheng Liao, Mei-zhu Gao
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Thrombosis Journal
Subjects:
Antithrombin
Deficiency
SERPINC1
Mutation
Vein thrombosis
Online Access:https://doi.org/10.1186/s12959-022-00443-6

Internet

https://doi.org/10.1186/s12959-022-00443-6

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