Thrombosis and Haemostasis, Table of Contents Thromb Haemost 1996; 76(02): 270-274DOI: 10.1055/s-0038-1650567 Scientific and Standardization Committee Communication Schattauer GmbH Stuttgart Factor VIII Binding Assay of von Willebrand Factor and the Diagnosis of Type 2N von Willebrand Disease -Results of an International SurveyOn behalf of the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the ISTHAuthors Author Affiliations Claudine Mazurier The Laboratoire de Recherche sur I’Hémostase, LFB/CRTS, Lille, France Dominique Meyer 1 The Inserm U143, Unité de Recherche sur I’Hémostase et la Thrombose, Hôpital Bicêtre, Le Kremlin Bicêtre, France Recommend Article Abstract PDF Download(opens in new window) Buy Article(opens in new window) PDF (313 kb) References References 1 Mazurier C, Jorieux S, Dieval J. 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Variant von Willebrand disease with defective binding to factor VIII: the first case from Japan. Int J Hematol 1993; 57: 163-173 14 Wise RJ, Ewenstein BM, Gorlin J, Narins SC, Jesson M, Handin RI. Autosomal recessive transmission of hemophilia a due to a von Willebrand factor mutation. Hum Genet 1993; 91: 367-372 15 Siguret V, Lavergne JM, Cherel G, Boyer-Neumann C, Ribba AS, Bahnak BR, Meyer D, Pietu G. Novel case of compound heterozygosity with Normandy/Type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression of the mRNA level causing type I vWD. Hum Genet 1994; 93: 95-102 16 Perez-Casal M, Daly M, Peake I. A case of recessive type 2N von Wille-brand’s disease due to Arg53Trp substitution. Am J Hemat 1995; 48: 140 17 Lavergne JM, Piao Y, Ribba AS, Girma JP, Siguret V, Pietu G, Boyer-Neumann C, Schandelong A, Bahnak BR, Meyer D. Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression. Thromb Haemost 1993; 70: 691-696 18 Mazurier C, Gaucher C, Jorieux S, Parquet-Gemez A, Goudemand M. Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling. Br J Haematol 1990; 76: 372-379 19 Lopez-Femandez MF, Blanco-Lopez MJ, Castineira MP, Batlle J. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. Am J Hematol 1992; 40: 20-27 20 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-525 21 Mazurier C. Von Willebrand disease masquerading as haemophilia A. Thromb Haemost 1992; 67: 391-396 22 Zhang ZP, Falk G, Blomback M, Egberg N, Anvret M. A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. Hum Mol Gen 1992; 1: 767-768 23 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 Arg 19 and His54 in mature von Willebrand factor. Blood 1996; 87: 1013-1021
