Article
SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China.
Orphanet journal of rare diseases - 26 Mar 2026
Xu Fei, Chen Xiaoli, Xu Qiyu, Zou Anqing, Li Xiaolong, Wang Mingshan, Yang Lihong, Xie Haixiao
Abstract excerpt
BACKGROUND: Inherited antithrombin deficiency (ATD), a rare autosomal dominant disorder due to SERPINC1 gene mutations, is the most severe inherited thrombophilia. Limited literature exists that focuses on ATD and its mutations in the Chinese population. This study aimed to characterize SERPINC1 gene mutations in a Chinese cohort and to explore their relationship with thrombophilia. METHODS: Coagulation screening...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Humans
- Male
- Middle Aged
- Young Adult
- Antithrombin III
- Antithrombin III Deficiency
- China
- HEK293 Cells
- Mutation
- Thrombosis