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Volumn 76, Issue 2, 1996, Pages 270-274

Factor VIII binding assay of van willebrand factor and the diagnosis of type 2N von willebrand disease - Results of an international survey

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

EID: 0029813966     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650567     Document Type: Article
Times cited : (63)

References (23)
  • 1
    • 9444284134 scopus 로고
    • Evidence for an abnormal FVIII/von Willebrand factor interaction in a patient presenting as a lifelong bleeding diathesis associated with FVIII deficiency
    • Abstr. 1479
    • Mazurier C, Jorieux S, Dieval J. Evidence for an abnormal FVIII/von Willebrand factor interaction in a patient presenting as a lifelong bleeding diathesis associated with FVIII deficiency. Thromb Haemost 1989; 62: 472 (Abstr. 1479).
    • (1989) Thromb Haemost , vol.62 , pp. 472
    • Mazurier, C.1    Jorieux, S.2    Dieval, J.3
  • 2
    • 9444241332 scopus 로고
    • A new variant of von Willebrand disease with defective binding to factor VIII
    • Abstr. 1477
    • Nishino M, Girma JP, Rothschild C, Fressinaud F, Meyer D. A new variant of von Willebrand disease with defective binding to factor VIII. Thromb Haemost 1989; 62: 472 (Abstr. 1477).
    • (1989) Thromb Haemost , vol.62 , pp. 472
    • Nishino, M.1    Girma, J.P.2    Rothschild, C.3    Fressinaud, F.4    Meyer, D.5
  • 3
    • 0024425034 scopus 로고
    • New variant of von Willebrand disease with defective binding to factor VIII
    • Nishino M, Girma JP, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
    • (1989) Blood , vol.74 , pp. 1591-1599
    • Nishino, M.1    Girma, J.P.2    Rothschild, C.3    Fressinaud, E.4    Meyer, D.5
  • 4
    • 0025012865 scopus 로고
    • A new von Willebrand factor (vWF) 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
    • Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) 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.
    • (1990) Blood , vol.75 , pp. 20-26
    • Mazurier, C.1    Dieval, J.2    Jorieux, S.3    Delobel, J.4    Goudemand, M.5
  • 5
    • 0025817840 scopus 로고
    • The "Normandy" variant of von Willebrand's disease: Characterization of a point mutation in the von Willebrand factor gene
    • Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C, The "Normandy" variant of von Willebrand's disease: characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-41.
    • (1991) Blood , vol.77 , pp. 1937-1941
    • Gaucher, C.1    Jorieux, S.2    Mercier, B.3    Oufkir, D.4    Mazurier, C.5
  • 7
    • 0025766750 scopus 로고
    • Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
    • Cacheris PM, Nichols WC, Ginsburg D. Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction: J Biol Chem 1991; 266: 13499-502.
    • (1991) J Biol Chem , vol.266 , pp. 13499-13502
    • Cacheris, P.M.1    Nichols, W.C.2    Ginsburg, D.3
  • 8
    • 0026002404 scopus 로고
    • Abnormal binding of factor VIII is linked with the substitution of Glutamine for Arginine 91 in von Willebrand factor in a variant form of von Willebrand disease
    • Kroner PA, Friedman KD, Fans S, Scott JP, Montgomery RR. Abnormal binding of factor VIII is linked with the substitution of Glutamine for Arginine 91 in von Willebrand factor in a variant form of von Willebrand disease. J Biol Chem 1991; 266: 19146-9.
    • (1991) J Biol Chem , vol.266 , pp. 19146-19149
    • Kroner, P.A.1    Friedman, K.D.2    Fans, S.3    Scott, J.P.4    Montgomery, R.R.5
  • 9
    • 0026527395 scopus 로고
    • The mutation Arg (53)→Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor
    • Jorieux S, Tuley EA, Gaucher C, Mazurier C, Sadler JE. The mutation Arg (53)→Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor. Blood 1992; 79: 563-7.
    • (1992) Blood , vol.79 , pp. 563-567
    • Jorieux, S.1    Tuley, E.A.2    Gaucher, C.3    Mazurier, C.4    Sadler, J.E.5
  • 10
    • 0025837733 scopus 로고
    • Identification of two point mutations in the von Willebrand factor gene of three families with the "Normandy" variant of von Willebrand disease
    • 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: 506-14.
    • (1991) Br J Haematol , vol.78 , pp. 506-514
    • Gaucher, C.1    Mercier, B.2    Jorieux, S.3    Oufkir, D.4    Mazurier, C.5
  • 11
    • 0026557952 scopus 로고
    • A patient with von Willebrand's disease characterized by a coumpound heterozygosity for a substitution of Arg 854 by Gln in the putative factor VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
    • Peerlinck K, Eikenboom JC, Ploos van Amstel HK, Sangtawesin W, Amout J, Reitsma PH, Vermylen J, Briët E. A patient with von Willebrand's disease characterized by a coumpound heterozygosity for a substitution of Arg 854 by Gln in the putative factor VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Br J Haematol 1992; 80: 358-63.
    • (1992) Br J Haematol , vol.80 , pp. 358-363
    • Peerlinck, K.1    Eikenboom, J.C.2    Van Ploos Amstel, H.K.3    Sangtawesin, W.4    Amout, J.5    Reitsma, P.H.6    Vermylen, J.7    Briët, E.8
  • 14
    • 0027173076 scopus 로고
    • Autosomal recessive transmission of hemophilia a due to a von Willebrand factor mutation
    • 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: 367-72.
    • (1993) Hum Genet , vol.91 , pp. 367-372
    • Wise, R.J.1    Ewenstein, B.M.2    Gorlin, J.3    Narins, S.C.4    Jesson, M.5    Handin, R.I.6
  • 15
    • 0028167462 scopus 로고
    • 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
    • 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.
    • (1994) Hum Genet , vol.93 , pp. 95-102
    • Siguret, V.1    Lavergne, J.M.2    Cherel, G.3    Boyer-Neumann, C.4    Ribba, A.S.5    Bahnak, B.R.6    Meyer, D.7    Pietu, G.8
  • 16
    • 84995217166 scopus 로고
    • A case of recessive type 2N von Willebrand's disease due to Arg53Trp substitution
    • Perez-Casal M, Daly M, Peake I. A case of recessive type 2N von Willebrand's disease due to Arg53Trp substitution. Am J Hemat 1995; 48: 140.
    • (1995) Am J Hemat , vol.48 , pp. 140
    • Perez-Casal, M.1    Daly, M.2    Peake, I.3
  • 18
    • 0025116340 scopus 로고
    • 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
    • Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez 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: 372-9.
    • (1990) Br J Haematol , vol.76 , pp. 372-379
    • Mazurier, C.1    Gaucher, C.2    Jorieux, S.3    Parquet-Gernez, A.4    Goudemand, M.5
  • 19
    • 0026562062 scopus 로고
    • Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII
    • Lopez-Fernandez 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: 20-7.
    • (1992) Am J Hematol , vol.40 , pp. 20-27
    • Lopez-Fernandez, M.F.1    Blanco-Lopez, M.J.2    Castineira, M.P.3    Batlle, J.4
  • 20
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease
    • Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 21
    • 0026605718 scopus 로고
    • Von Willebrand disease masquerading as haemophilia A
    • Mazurier C. Von Willebrand disease masquerading as haemophilia A. Thromb Haemost 1992; 67: 391-6.
    • (1992) Thromb Haemost , vol.67 , pp. 391-396
    • Mazurier, C.1
  • 22
    • 0027023678 scopus 로고
    • A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients
    • Zhang ZP, Falk G, Blombäck 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: 767-8.
    • (1992) Hum Mol Gen , vol.1 , pp. 767-768
    • Zhang, Z.P.1    Falk, G.2    Blombäck, M.3    Egberg, N.4    Anvret, M.5
  • 23
    • 0030040896 scopus 로고    scopus 로고
    • The defective inter-action 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
    • Kroner PA, Foster PA, Fahs SA, Montgomery RR. The defective inter-action 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: 1013-21.
    • (1996) Blood , vol.87 , pp. 1013-1021
    • Kroner, P.A.1    Foster, P.A.2    Fahs, S.A.3    Montgomery, R.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.