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

Thrombosis and Haemostasis

Volumn 92, Issue 1, 2004, Pages 1-2

  Mazurier, Claudine ^a  

^a Laboratoire Francais du Fractionnement et des Biotechnologies   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; CYSTEINE; MOLECULAR MARKER; RECOMBINANT BLOOD CLOTTING FACTOR 8; RISTOCETIN; THROMBOCYTE RECEPTOR; VON WILLEBRAND FACTOR;

BIOASSAY; BLOOD CLOTTING; CELL CULTURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; EDITORIAL; EUROPE; FINANCIAL MANAGEMENT; GENE EXPRESSION; GENE MUTATION; HEMOPHILIA A; HEMOSTASIS; HUMAN; METHODOLOGY; MISSENSE MUTATION; MOLECULAR SIZE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DEFECT; PROTEIN SECRETION; PROTEIN SYNTHESIS; QUALITATIVE ANALYSIS; RECESSIVE INHERITANCE; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

EID: 3543026294     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/th04-05-0292     Document Type: Editorial

References (8)

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.