Clinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia
We establish the c.473T > A (p.Leu158Gln) variant in SERPINC1 as a pathogenic mutation underlying type I HATD, characterized by impaired secretion, cytoplasmic retention, and reduced functional activity of the mutant protein.
Authors
- Xuemei Guo (ORCID: https://orcid.org/0000-0001-5298-8063)
- Biao Xu (ORCID: https://orcid.org/0000-0001-5351-2630)
- Yihai Liu (ORCID: https://orcid.org/0000-0001-5404-5931)
- Yanan Xue (ORCID: https://orcid.org/0000-0002-8406-6263)
- Meijuan Zou
- Yong Wang (ORCID: https://orcid.org/0000-0003-3652-8037)
- Lina Kang (ORCID: https://orcid.org/0000-0003-3265-5944)
- Li Zhu (ORCID: https://orcid.org/0000-0001-5249-6536)
- Long Yi (ORCID: https://orcid.org/0009-0009-3100-792X)
- Mao Kefan
- Zhong Chongxia
Institutions
- Nanjing Drum Tower Hospital (CN)
- Nanjing Medical University (CN)
- Nanjing University (CN)
Publication Details
- Journal
- Thrombosis Journal
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1186/s12959-025-00801-0
- Citations
- 1
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 1.77