In vitroand ex vivorescue of a nonsense mutation responsible for severe coagulation factor V deficiency
- Resource Type
- Article
- Authors
- Todaro, Alice M.; Radu, Claudia M.; Ciccone, Maria; Toffanin, Serena; Serino, M. Luisa; Campello, Elena; Bulato, Cristiana; Lunghi, Barbara; Gemmati, Donato; Cuneo, Antonio; Hackeng, Tilman M.; Simioni, Paolo; Bernardi, Francesco; Castoldi, Elisabetta
- Source
- Journal of Thrombosis and Haemostasis; February 2024, Vol. 22 Issue: 2 p410-422, 13p
- Subject
- Language
- ISSN
- 15387933; 15387836
Coagulation factor V (FV) deficiency is a rare bleeding disorder that is usually managed with fresh-frozen plasma. Patients with nonsense mutations may respond to treatment with readthrough agents.