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Journal Abstract Search

217 related items for PubMed ID: 1906877

  • 1. 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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  • 2. 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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  • 3. 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.
    Br J Haematol; 1991 Aug 15; 78(4):506-14. PubMed ID: 1832934
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  • 5. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
    Jorieux S, Gaucher C, Goudemand J, Mazurier C.
    Blood; 1998 Dec 15; 92(12):4663-70. PubMed ID: 9845532
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  • 9. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.
    Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, Girolami A.
    Blood; 2003 Jan 01; 101(1):151-6. PubMed ID: 12393698
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  • 12. Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
    Swystun LL, Georgescu I, Mewburn J, Deforest M, Nesbitt K, Hebert K, Dwyer C, Brown C, Notley C, Lillicrap D.
    J Thromb Haemost; 2017 Aug 01; 15(8):1607-1619. PubMed ID: 28581694
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  • 13. 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 01; 109(3):347-52. PubMed ID: 9495210
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  • 14. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
    Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici AB, James P, Peake I, Eikenboom J, Goodeve A, MCMDM-1VWD and ZPMCB-VWD study groups.
    J Thromb Haemost; 2010 Sep 01; 8(9):1986-93. PubMed ID: 20492463
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  • 15. The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene.
    Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C.
    Blood; 1991 May 01; 77(9):1937-41. PubMed ID: 2018834
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  • 16. Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
    Jacquemin M.
    Acta Haematol; 2009 May 01; 121(2-3):102-5. PubMed ID: 19506355
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  • 17. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 May 01; 41(1):34-43. PubMed ID: 9599650
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  • 19. 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 01; 120(4):627-32. PubMed ID: 12588349
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  • 20. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan 01; 75(1):9-18. PubMed ID: 11843298
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