The β‐Chain Mutation p.<scp>Arg17Stop</scp> Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia
The p.Arg17Stop mutation in the fibrinogen Bβ chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.
Authors
- Liqun Xiang
- Lin Liao (ORCID: https://orcid.org/0000-0003-3492-321X)
- Qian Zhang (ORCID: https://orcid.org/0000-0002-9040-3289)
- Qiulan Luo (ORCID: https://orcid.org/0000-0001-7103-3465)
- Qian Chen (ORCID: https://orcid.org/0000-0002-8442-6089)
- Yangyang Wu (ORCID: https://orcid.org/0009-0007-1814-5100)
- Jie Yan (ORCID: https://orcid.org/0000-0001-6096-0263)
- Chaoyu Huang (ORCID: https://orcid.org/0000-0003-3670-1960)
- Kaili Qin (ORCID: https://orcid.org/0000-0001-9575-9279)
Institutions
- Guangxi Medical University (CN)
- First Affiliated Hospital of GuangXi Medical University (CN)
Publication Details
- Journal
- Journal of Clinical Laboratory Analysis
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/jcla.25123
- Citations
- 1
- Primary Topic
- Blood properties and coagulation
- Type
- article
- Field-Weighted Citation Impact
- 0.42
Funders
- National Natural Science Foundation of China