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SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China

Abstract 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 SERP...

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Huvudupphov: Fei Xu, Xiaoli Chen, Qiyu Xu, Anqing Zou, Xiaolong Li, Mingshan Wang, Lihong Yang, Haixiao Xie
Materialtyp: Artigo
Språk:Inglês
Utgiven: BMC 2026-03-01
Serie:Orphanet Journal of Rare Diseases
Ämnen:
Antithrombin deficiency
SERPINC1 gene
Mutation
Thrombophilia
In silico bioinformatic tools
Länkar:https://doi.org/10.1186/s13023-026-04200-0
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