Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia
AT-K322* resulted in the generation of a truncated protein, which in turn affected the secretion of AT, ultimately leading to AT deficiency.
Authors
- Jun Wu (ORCID: https://orcid.org/0000-0001-5178-0906)
- Xinyang Yue (ORCID: https://orcid.org/0009-0005-8636-2575)
- Haiyue Zhang (ORCID: https://orcid.org/0000-0002-7143-9550)
- Tenglong Dai
Institutions
- Capital Medical University (CN)
- Peking University (CN)
- Beijing Jishuitan Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1186/s13023-024-03498-y
- Citations
- 2
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Beijing Municipal Health Commission