von Willebrand Factor/Factor VIII Binding Is not Affected by the Arg89Gln Polymorphism in von Willebrand Factor

• References

• 1 Weiss HJ, Sussman II, Hoyer LW. Stabilisation of the factor VIII in plasma by the von Willebrand factor. J Clin Invest 1977; 60: 309-404
• 2 Tuddenham EGD, Lane RS, Rotblat F, Johnson AJ, Snape TJ, Middleton S, Kemoff PBA. Response to infusions of polyelectrolyte fractionated human factor VIII concentrate in human haemophilia A and von Willebrand disease. Br J Haematol 1982; 52: 259-267
• 3 Nishino M, Girma J-P, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand Disease with defective binding to factor VIII. Blood 1989; 74: 1591-1599
• 4 Kroner PA, Foster PA, Fahs SA, Montgomery RR. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Argl9 and His54 in mature von Willebrand factor. Blood 1996; 87: 1013-1021
• 5 Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenberg J, Schwaab R. Compound heterozygosity for AC and mutations in the factor VIII binding domain of von Willebrand factor and the description of a novel mutation (E24K) correlated with a more severe form of von Willebrand disease type Normandy. Thromb Haemost 1995; 73: 1169 (Abstract)
• 6 Tuley EA, Gaucher C, Jorieux S, Worrall NK, Sadler JE, Mazurier C. Expression of von Willebrand factor “Normandy”: An autosomal mutation that mimics haemophilia A. Proc Natl Acad Sci, USA 1991; 88: 6377-6381
• 7 Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C. The “Normandy” variant of von Willebrand disease: Characterisation of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-1941
• 8 Gaucher C, Mercier B, Jorieux S, Oufkir D, Mazurier C. Identification of two point mutations in the von Willebrand factor gene of three families with the ‘Normandy’ variant of von Willebrand disease. Br J Haematol 1991; 78: 506-514
• 9 Cacheris PM, Nichols WC, Ginsburg D. Molecular characterisation of a unique von Willebrand variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. J Biol Chem 1991; 88: 13499-13502
• 10 Nesbitt IM, Goodeve AC, Guilliatt AM, Makris M, Preston FE, Peake IR. Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. Thromb Haemost 1996; 75: 959-964
• 11 Shelton-Inloes BB, Titani K, Sadler JE. cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms. Biochemistry 1986; 25: 3164-3171
• 12 Sadler EJ, Ginsburg D. A database of polymorphisms in the von Willebrand factor gene and pseudogene. Thromb Haemost 1993; 69: 185-191
• 13 Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E. Recessive inheritance of von Willebrand disease type 1. Lancet 1993; 341: 982-986