Identification of two point mutations associated with inherited antithrombin deficiency
Our study demonstrates that two mutations in SERPINC1 gene altered the production and structure of AT by in vitro protein expression and functional studies, including protein secretion and production. These findings enhance our understanding of the genetic basis of AT deficiency and its possible clinical implications.
Authors
- Hwei‐Jen Lee
- Yeu‐Chin Chen (ORCID: https://orcid.org/0000-0001-6751-7723)
- Chia-Yau Chang (ORCID: https://orcid.org/0000-0002-0408-2993)
- Shiue‐Wei Lai (ORCID: https://orcid.org/0000-0003-2928-5401)
Institutions
- Tri-Service General Hospital (TW)
- Taipei Medical University Hospital (TW)
- Taipei Medical University (TW)
- National Defense Medical Center (TW)
Publication Details
- Journal
- Thrombosis Journal
- Published
- 2024-12-03
- DOI
- https://doi.org/10.1186/s12959-024-00677-6
- Citations
- 3
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 1.36
Funders
- University of Louisville
- Tri-Service General Hospital