Article
von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.
Blood - 28 Nov 2013
Lillicrap David
Abstract excerpt
von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder. The disease represents a range of quantitative and qualitative pathologies of the adhesive glycoprotein von Willebrand factor (VWF). The pathogenic mechanisms responsible for the type 2 qualitative variants of VWF are now well characterized, with most mutations representing missense substitutions influencing VWF multimer...
Topics
- Blood Coagulation Tests
- Deamino Arginine Vasopressin
- Factor VIII
- Genetic Testing
- Humans
- Mutation
- Recombinant Proteins
- von Willebrand Diseases
- von Willebrand Factor