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Journal Abstract Search

229 related items for PubMed ID: 12353070

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  • 24. 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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  • 26. 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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  • 32. Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Clin Appl Thromb Hemost; 2006 Oct; 12(4):397-420. PubMed ID: 17000885
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  • 33. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 Oct; 41(1):34-43. PubMed ID: 9599650
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  • 34. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
    Casonato A, De Marco L, Gallinaro L, Sztukowska M, Mazzuccato M, Battiston M, Pagnan A, Ruggeri ZM.
    Thromb Haemost; 2007 Apr; 97(4):527-33. PubMed ID: 17393013
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  • 36. A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation.
    Shen MC, Lin JS, Lin DS, Hsu SC, Lin B.
    Thromb Res; 2003 Apr; 112(5-6):291-5. PubMed ID: 15041272
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  • 37. Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease.
    Enayat MS, Guilliatt AM, Surdhar GK, Jenkins PV, Pasi KJ, Toh CH, Williams MD, Hill FG.
    Blood; 2001 Aug 01; 98(3):674-80. PubMed ID: 11468166
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  • 38. Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
    Murray EW, Giles AR, Lillicrap D.
    Am J Hum Genet; 1992 Jan 01; 50(1):199-207. PubMed ID: 1729889
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  • 39. Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications.
    Michiels JJ, van de Velde A, van Vliet HH, van der Planken M, Schroyens W, Berneman Z.
    Semin Thromb Hemost; 2002 Apr 01; 28(2):111-32. PubMed ID: 11992235
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  • 40. Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease.
    Tjernberg P, Vos HL, Spaargaren-van Riel CC, Luken BM, Voorberg J, Bertina RM, Eikenboom JC.
    Thromb Haemost; 2006 Dec 01; 96(6):717-24. PubMed ID: 17139364
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