Article
Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
Thrombosis and haemostasis - 1 Jul 2004
Schneppenheim Reinhard, Lenk Harald, Obser Tobias, Oldenburg Johannes, Oyen Florian, Schneppenheim Sonja, Schwaab Rainer, Will Kerstin, Budde Ulrich
Abstract excerpt
Von Willebrand disease type Normandy (VWD 2N) is caused by mutations at the factor VIII (FVIII) binding site of VWF, located at the amino-terminus of mature VWF. It is inherited in a recessive fashion and both homozygous and compound heterozygous mutations have been identified. Homozygous mutations are correlated with a clinical phenotype indistinguishable from mild hemophilia A by conventional laboratory tests,...
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