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Journal Abstract Search


199 related items for PubMed ID: 1729889

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  • 3. Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
    Ribba AS, Lavergne JM, Bahnak BR, Derlon A, Piétu G, Meyer D.
    Blood; 1991 Oct 01; 78(7):1738-43. PubMed ID: 1912563
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  • 5. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
    Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR.
    Blood; 1992 Apr 15; 79(8):2048-55. PubMed ID: 1373334
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  • 6. Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.
    Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Sadler JE.
    J Biol Chem; 1993 Sep 25; 268(27):20497-501. PubMed ID: 8376405
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  • 8. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
    Miller JL, Cunningham D, Lyle VA, Finch CN.
    Proc Natl Acad Sci U S A; 1991 Jun 01; 88(11):4761-5. PubMed ID: 2052556
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  • 9. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease.
    Takahashi H, Murata M, Moriki T, Anbo H, Furukawa T, Nikkuni K, Shibata A, Handa M, Kawai Y, Watanabe K.
    Blood; 1995 Feb 01; 85(3):727-33. PubMed ID: 7833477
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  • 10. Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.
    Lavergne JM, De Paillette L, Bahnak BR, Ribba AS, Fressinaud E, Meyer D, Pietu G.
    Br J Haematol; 1992 Sep 01; 82(1):66-72. PubMed ID: 1419804
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  • 11. Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.
    Ware J, Dent JA, Azuma H, Sugimoto M, Kyrle PA, Yoshioka A, Ruggeri ZM.
    Proc Natl Acad Sci U S A; 1991 Apr 01; 88(7):2946-50. PubMed ID: 2011604
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  • 12. Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease.
    Murray EW, Giles AR, Bridge PJ, Peake IR, Lillicrap DP.
    Blood; 1991 Apr 01; 77(7):1476-83. PubMed ID: 2009368
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  • 13. 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 01; 78(4):506-14. PubMed ID: 1832934
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  • 14. Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.
    Inbal A, Kornbrot N, Harrison P, Randi AM, Sadler JE.
    Thromb Haemost; 1993 Dec 20; 70(6):1058-62. PubMed ID: 8165601
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  • 15. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
    Russell SD, Roth GJ.
    Blood; 1993 Apr 01; 81(7):1787-91. PubMed ID: 8384898
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  • 16. The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
    Cooney KA, Nichols WC, Bruck ME, Bahou WF, Shapiro AD, Bowie EJ, Gralnick HR, Ginsburg D.
    J Clin Invest; 1991 Apr 01; 87(4):1227-33. PubMed ID: 1672694
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  • 17. Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.
    Ribba AS, Voorberg J, Meyer D, Pannekoek H, Pietu G.
    J Biol Chem; 1992 Nov 15; 267(32):23209-15. PubMed ID: 1429668
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  • 18. Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.
    Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Pietu G.
    Blood; 1994 Feb 01; 83(3):833-41. PubMed ID: 8298143
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  • 19. Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
    Randi AM, Jorieux S, Tuley EA, Mazurier C, Sadler JE.
    J Biol Chem; 1992 Oct 15; 267(29):21187-92. PubMed ID: 1400429
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  • 20. Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.
    Cooney KA, Ginsburg D.
    Blood; 1996 Mar 15; 87(6):2322-8. PubMed ID: 8630394
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