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 utilised methods for the phenotypic and genotypic detection of type 2N vWD. The binding of FVIII to vWF in 69 patients, 36...
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