Article
The role of molecular genetics in diagnosing von Willebrand disease.
Seminars in thrombosis and hemostasis - 1 Sept 2008
James Paula, Lillicrap David
Abstract excerpt
von Willebrand disease (VWD) is the most common inherited bleeding disorder in humans, but its diagnosis, using conventional clinical criteria and phenotypic hemostasis test results, can be problematic. The von Willebrand factor gene was cloned in the mid-1980s, and since that time, a significant amount of information has been gathered with respect to the molecular pathology responsible for this trait. This...
Topics
- DNA Mutational Analysis
- Diagnosis, Differential
- Factor VIII
- Genetic Techniques
- Genetic Testing
- Humans
- Mutation
- von Willebrand Diseases
- von Willebrand Factor