Probing rare von Willebrand disease–causing mutations in the D4 and C-domains of von Willebrand factor
These data show that variants within the C-terminal region of VWF can dramatically impact proper VWF expression and can different impacts on VWF depending on homozygosity or heterozygosity.
Authors
- Alain Chion
- Golzar Mobayen (ORCID: https://orcid.org/0009-0007-3847-5035)
- Sammy El-Mansi (ORCID: https://orcid.org/0000-0002-8374-3058)
- Thomas D. Nightingale (ORCID: https://orcid.org/0000-0002-3429-0988)
- Thomas A. J. McKinnon (ORCID: https://orcid.org/0000-0001-8612-3041)
Institutions
- Royal College of Surgeons in Ireland (IE)
Publication Details
- Journal
- Research and Practice in Thrombosis and Haemostasis
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1016/j.rpth.2025.102922
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- British Heart Foundation