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Journal Abstract Search

340 related items for PubMed ID: 8562925

  • 1. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
    Kroner PA, Foster PA, Fahs SA, Montgomery RR.
    Blood; 1996 Feb 01; 87(3):1013-21. PubMed ID: 8562925
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  • 3. 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.
    Blood; 1992 Feb 01; 79(3):563-7. PubMed ID: 1732004
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  • 4. 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, Fahs SA, Scott JP, Montgomery RR.
    J Biol Chem; 1991 Oct 15; 266(29):19146-9. PubMed ID: 1918030
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  • 5. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
    Schneppenheim R, Lenk H, Obser T, Oldenburg J, Oyen F, Schneppenheim S, Schwaab R, Will K, Budde U.
    Thromb Haemost; 2004 Jul 15; 92(1):36-41. PubMed ID: 15213842
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  • 6. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
    Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Br J Haematol; 2003 Feb 15; 120(4):627-32. PubMed ID: 12588349
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  • 8. 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.
    J Biol Chem; 1991 Jul 25; 266(21):13499-502. PubMed ID: 1906877
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  • 11. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
    Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Schwaab R, Oldenburg J.
    Blood; 2001 Apr 01; 97(7):2059-66. PubMed ID: 11264172
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  • 12. Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
    Hilbert L, Jorieux S, Fontenay-Roupie M, Guicheteau M, Fressinaud E, Meyer D, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Br J Haematol; 2004 Oct 01; 127(2):184-9. PubMed ID: 15461624
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  • 13. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment.
    Jorieux S, Fressinaud E, Goudemand J, Gaucher C, Meyer D, Mazurier C.
    Blood; 2000 May 15; 95(10):3139-45. PubMed ID: 10807780
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  • 15. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
    Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z.
    Acta Haematol; 2009 May 15; 121(2-3):119-27. PubMed ID: 19506358
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  • 17. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications.
    Casonato A, Pontara E, Zerbinati P, Zucchetto A, Girolami A.
    Am J Clin Pathol; 1998 Mar 15; 109(3):347-52. PubMed ID: 9495210
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  • 18. Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.
    Lavergne JM, Piao Y, Ribba AS, Girma JP, Siguret V, Piétu G, Boyer-Neumann C, Schandelong A, Bahnak BR, Meyer D.
    Thromb Haemost; 1993 Oct 18; 70(4):691-6. PubMed ID: 8115998
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  • 20. Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets.
    Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR.
    Blood; 1996 Oct 01; 88(7):2559-68. PubMed ID: 8839848
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