Article
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.
Thrombosis and haemostasis - 1 Jun 1996
Nesbitt I M, Goodeve A C, Guilliatt A M, Makris M, Preston F E, Peake I R
Abstract excerpt
von Willebrand factor (vWF) is a multimeric glycoprotein found in plasma non covalently linked to factor VIII (FVIII). Type 2N von Willebrand disease (vWD) is caused by a mutation in the vWF gene that results in vWF with a normal multimeric pattern, but with reduced binding to FVIII. We have util...
Topics
- Alleles
- Hemophilia A
- Humans
- Molecular Probe Techniques
- Mutation
- Phenotype
- von Willebrand Diseases
- von Willebrand Factor