Something new about type Normandy von Willebrand disease (type 2N VWD)?

• References

• 1 Mazurier C, Dieval J, Jorieux S. et al. A new von Willebrand factor defect in a patient with factor VIII deficiency but with normal levels and multimeric patterns of both plasma and platelet VWF. Characterization of abnormal VWF/FVIII interaction. Blood 1990; 75: 20-6.
• 2 Tuley EA, Gaucher C, Jorieux S. et al. Expression of von Willebrand factor Normandy. An autosomal mutation that mimics hemophilia A. Proc Natl Acad Sci USA 1991; 88: 6377-81.
• 3 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
• 4 Nishino M, Girma JP, Rothschild C. et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
• 5 Caron C, Mazurier C, Goudemand J. Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents. Br J Haematol 2002; 117: 716-8.
• 6 Mazurier C, Goudemand J, Hilbert L. et al. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001; 14: 337-47.
• 7 Schneppenheim R, Lenk H, Obser T. et al. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization. Thromb Haemost 2004; 92: 36-41.
• 8 Jorieux S, Gaucher C, Goudemand J. et al. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization. Blood 1998; 92: 4663-70.