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229 related items for PubMed ID: 12353070

  • 1. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).
    Lethagen S, Isaksson C, Schaedel C, Holmberg L.
    Thromb Haemost; 2002 Sep; 88(3):421-6. PubMed ID: 12353070
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  • 3. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Sep; 121(2-3):71-84. PubMed ID: 19506352
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  • 4. Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
    Hommais A, Stépanian A, Fressinaud E, Mazurier C, Pouymayou K, Meyer D, Girma JP, Ribba AS.
    Thromb Haemost; 2006 May; 95(5):776-81. PubMed ID: 16676067
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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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  • 9. 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 May; 121(2-3):111-8. PubMed ID: 19506357
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  • 10. 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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  • 11. A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.
    Hilbert L, Federici AB, Baronciani L, Dallagiovanna S, Mazurier C.
    Haematologica; 2004 Sep; 89(9):1128-33. PubMed ID: 15377475
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  • 14. Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.
    Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM.
    J Thromb Haemost; 2007 Feb; 5(2):282-8. PubMed ID: 17155947
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  • 15. Identification and characterization of a novel mutation in von Willebrand factor causing type 2B von Willebrand's disease.
    Facey DA, Favaloro EJ, Koutts J, Berndt MC, Hertzberg MS.
    Br J Haematol; 1999 May; 105(2):538-41. PubMed ID: 10233434
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  • 20. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE.
    Blood; 1996 Oct 01; 88(7):2433-41. PubMed ID: 8839833
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