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Journal Abstract Search

276 related items for PubMed ID: 8088787

  • 1. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
    Zhang ZP, Blombäck M, Egberg N, Falk G, Anvret M.
    Genomics; 1994 May 01; 21(1):188-93. PubMed ID: 8088787
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  • 2. 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 01; 79(4):709-17. PubMed ID: 9569178
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  • 3. Characterization of partial gene deletions in type III von Willebrand disease with alloantibody inhibitors.
    Mancuso DJ, Tuley EA, Castillo R, de Bosch N, Mannucci PM, Sadler JE.
    Thromb Haemost; 1994 Aug 01; 72(2):180-5. PubMed ID: 7831648
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  • 6. Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
    Kakela JK, Friedman KD, Haberichter SL, Buchholz NP, Christopherson PA, Kroner PA, Gill JC, Montgomery RR, Bellissimo DB.
    Mol Genet Metab; 2006 Mar 01; 87(3):262-71. PubMed ID: 16321553
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  • 7. Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease.
    Rieger M, Schwarz HP, Turecek PL, Dorner F, van Mourik JA, Mannhalter C.
    Thromb Haemost; 1998 Aug 01; 80(2):332-7. PubMed ID: 9716162
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  • 10. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.
    Nesbitt IM, Hampton KK, Preston FE, Peake IR, Goodeve AC.
    Thromb Haemost; 1999 Sep 01; 82(3):1061-4. PubMed ID: 10494764
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  • 11. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
    Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A.
    Thromb Haemost; 2006 Dec 01; 96(6):711-6. PubMed ID: 17139363
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  • 13. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
    Bowen DJ, Standen GR, Mazurier C, Gaucher C, Cumming A, Keeney S, Bidwell J.
    Thromb Haemost; 1998 Jul 01; 80(1):32-6. PubMed ID: 9684781
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  • 14. Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.
    Melo-Nava BM, Benítez H, Palacios JJ, Nieva B, Arenas D, Jaloma-Cruz AR, Navarrete C, Salamanca F, Peñaloza R.
    Blood Cells Mol Dis; 2007 Jul 01; 39(3):361-5. PubMed ID: 17681836
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  • 16. Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.
    Yadegari H, Driesen J, Pavlova A, Biswas A, Hertfelder HJ, Oldenburg J.
    Thromb Haemost; 2012 Oct 01; 108(4):662-71. PubMed ID: 22871923
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  • 18. A database of polymorphisms in the von Willebrand factor gene and pseudogene. For the Consortium on von Willebrand Factor Mutations and Polymorphisms and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
    Sadler JE, Ginsburg D.
    Thromb Haemost; 1993 Feb 01; 69(2):185-91. PubMed ID: 8456432
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  • 20. 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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