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Journal Abstract Search


215 related items for PubMed ID: 9569179

  • 1. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease.
    Holmberg L, Karpman D, Isaksson C, Kristoffersson AC, Lethagen S, Schneppenheim R.
    Thromb Haemost; 1998 Apr; 79(4):718-22. PubMed ID: 9569179
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  • 2. Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease.
    Lanke E, Kristoffersson AC, Philips M, Holmberg L, Lethagen S.
    Thromb Haemost; 2008 Aug; 100(2):211-6. PubMed ID: 18690339
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  • 3. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
    Michiels JJ, Gadisseur A, van der Planken M, Schroyens W, Berneman Z.
    Acta Haematol; 2009 Aug; 121(2-3):111-8. PubMed ID: 19506357
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  • 5. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
    Baronciani L, Federici AB, Cozzi G, La Marca S, Punzo M, Rubini V, Canciani MT, Mannucci PM.
    Haemophilia; 2008 May; 14(3):549-55. PubMed ID: 18328061
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  • 7. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 May; 41(1):34-43. PubMed ID: 9599650
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  • 8. New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
    Casaña P, Martínez F, Haya S, Tavares A, Aznar JA.
    Haematologica; 2001 Apr; 86(4):414-9. PubMed ID: 11325649
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  • 9. Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.
    Hilbert L, Fressinaud E, Ribba AS, Meyer D, Mazurier C, INSERM network on molecular abnormalities in von Willebrand disease.
    Thromb Haemost; 2002 Apr; 87(4):635-40. PubMed ID: 12008946
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  • 10. Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Clin Appl Thromb Hemost; 2006 Jul; 12(3):277-95. PubMed ID: 16959681
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  • 12. A new candidate missense mutation (Leu 1657 IIe) in an apparently asymptomatic type 2A (phenotype IIA) von Willebrand disease family.
    Enayat MS, Guilliatt AM, Surdhar GK, Theophilus BD, Hill FG.
    Thromb Haemost; 2000 Sep; 84(3):369-73. PubMed ID: 11019957
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  • 13. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
    Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F.
    Thromb Haemost; 1998 Apr; 79(4):709-17. PubMed ID: 9569178
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  • 15. Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
    Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ.
    Acta Haematol; 2009 Apr; 121(2-3):145-53. PubMed ID: 19506361
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  • 18. Understanding von Willebrand's disease from gene defects to the patients.
    Zhang Z, Blombäck M, Anvret M.
    J Intern Med Suppl; 1997 Apr; 740():115-9. PubMed ID: 9350192
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  • 19. Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
    Castaman G, Bertoncello K, Bernardi M, Eikenboom JC, Budde U, Rodeghiero F.
    Am J Hematol; 2007 May; 82(5):376-80. PubMed ID: 17109387
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  • 20. L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
    Kashiwagi T, Matsushita T, Ito Y, Hirashima K, Sanda N, Fujimori Y, Yamada T, Okumura K, Takagi A, Murate T, Katsumi A, Takamatsu J, Yamamoto K, Naoe T, Kojima T.
    Haemophilia; 2008 May; 14(3):556-63. PubMed ID: 18397285
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