Molecular mechanism analysis of a family with hereditary coagulation FXI deficiency caused by compound heterozygous mutations
The inherited FXI deficiency of this family is related to nonsense mutation p.Tyr351stop and missense mutation p.Tyr503Cys.
Authors
- Longying Ye
- Lihong Yang (ORCID: https://orcid.org/0000-0002-9210-1022)
- Manlin Zeng
- Mingshan Wang (ORCID: https://orcid.org/0000-0001-5461-3951)
- Shuting Jiang
- Ke Zhang (ORCID: https://orcid.org/0000-0001-7982-5758)
- Yuan Chen (ORCID: https://orcid.org/0000-0002-2923-6880)
- Kaiqi Jia
Institutions
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
- The First People's Hospital of Tianmen (CN)
Publication Details
- Journal
- Blood Coagulation & Fibrinolysis
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1097/mbc.0000000000001330
- Citations
- 1
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article
- Field-Weighted Citation Impact
- 0.44