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194 related items for PubMed ID: 9920835

  • 1. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
    González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, García-Muñoz S, Ayuso MS, Parrilla R.
    Blood; 1999 Feb 01; 93(3):866-75. PubMed ID: 9920835
    [Abstract] [Full Text] [Related]

  • 2. Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
    Ferrer M, Tao J, Iruín G, Sánchez-Ayuso M, González-Rodríguez J, Parrilla R, González-Manchón C.
    Blood; 1998 Dec 15; 92(12):4712-20. PubMed ID: 9845537
    [Abstract] [Full Text] [Related]

  • 3. A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
    Grimaldi CM, Chen F, Scudder LE, Coller BS, French DL.
    Blood; 1996 Sep 01; 88(5):1666-75. PubMed ID: 8781422
    [Abstract] [Full Text] [Related]

  • 4. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa.
    Arias-Salgado EG, Tao J, González-Manchón C, Butta N, Vicente V, Ayuso MS, Parrilla R.
    Thromb Haemost; 2002 Apr 01; 87(4):684-91. PubMed ID: 12008952
    [Abstract] [Full Text] [Related]

  • 5. A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.
    Tao J, Arias-Salgado EG, González-Manchón C, Díaz-Cremades J, Ayuso MS, Parrilla R.
    Br J Haematol; 2000 Oct 01; 111(1):96-103. PubMed ID: 11091187
    [Abstract] [Full Text] [Related]

  • 6. A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.
    Tao J, Arias-Salgado EG, González-Manchón C, Iruín G, Butta N, Ayuso MS, Parrilla R.
    Br J Haematol; 2000 Dec 01; 111(3):965-73. PubMed ID: 11122161
    [Abstract] [Full Text] [Related]

  • 7. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
    Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y.
    Thromb Haemost; 1995 May 01; 73(5):756-62. PubMed ID: 7482399
    [Abstract] [Full Text] [Related]

  • 8. Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
    Ruan J, Peyruchaud O, Alberio L, Valles G, Clemetson K, Bourre F, Nurden AT.
    Br J Haematol; 1998 Sep 01; 102(4):918-25. PubMed ID: 9734640
    [Abstract] [Full Text] [Related]

  • 9. Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.
    Kato A, Yamamoto K, Miyazaki S, Jung SM, Moroi M, Aoki N.
    Blood; 1992 Jun 15; 79(12):3212-8. PubMed ID: 1317725
    [Abstract] [Full Text] [Related]

  • 10. Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.
    Peretz H, Rosenberg N, Usher S, Graff E, Newman PJ, Coller BS, Seligsohn U.
    Blood; 1995 Jan 15; 85(2):414-20. PubMed ID: 7529063
    [Abstract] [Full Text] [Related]

  • 11. Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
    Vannier C, Behnisch W, Bartsch I, Sandrock K, Ertle F, Schmidt K, Busse A, Superti-Furga A, Kulozik A, Santoso S, Zieger B.
    Klin Padiatr; 2010 May 15; 222(3):150-3. PubMed ID: 20514618
    [Abstract] [Full Text] [Related]

  • 12. Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
    Ruan J, Schmugge M, Clemetson KJ, Cazes E, Combrie R, Bourre F, Nurden AT.
    Br J Haematol; 1999 May 15; 105(2):523-31. PubMed ID: 10233432
    [Abstract] [Full Text] [Related]

  • 13. A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: importance of residues Ile325Pro326Gly327 for beta3 integrin subunit association.
    Morel-Kopp MC, Kaplan C, Proulle V, Jallu V, Melchior C, Peyruchaud O, Aurousseau MH, Kieffer N.
    Blood; 1997 Jul 15; 90(2):669-77. PubMed ID: 9226167
    [Abstract] [Full Text] [Related]

  • 14. A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
    Lanza F, Stierlé A, Fournier D, Morales M, André G, Nurden AT, Cazenave JP.
    J Clin Invest; 1992 Jun 15; 89(6):1995-2004. PubMed ID: 1602006
    [Abstract] [Full Text] [Related]

  • 15. A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
    Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M.
    J Clin Invest; 1991 Jan 15; 87(1):270-6. PubMed ID: 1702098
    [Abstract] [Full Text] [Related]

  • 16. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.
    Losonczy G, Rosenberg N, Kiss C, Kappelmayer J, Vereb G, Kerényi A, Balogh I, Muszbek L.
    Thromb Haemost; 2005 May 15; 93(5):904-9. PubMed ID: 15886807
    [Abstract] [Full Text] [Related]

  • 17. Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.
    Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Négrier C.
    Platelets; 2001 Dec 15; 12(8):486-95. PubMed ID: 11798398
    [Abstract] [Full Text] [Related]

  • 18. Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
    Grimaldi CM, Chen F, Wu C, Weiss HJ, Coller BS, French DL.
    Blood; 1998 Mar 01; 91(5):1562-71. PubMed ID: 9473221
    [Abstract] [Full Text] [Related]

  • 19. Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia.
    Yatuv R, Rosenberg N, Zivelin A, Peretz H, Dardik R, Trakhtenbrot L, Seligsohn U.
    Blood; 2001 Aug 15; 98(4):1063-9. PubMed ID: 11493452
    [Abstract] [Full Text] [Related]

  • 20. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia.
    Iwamoto S, Nishiumi E, Kajii E, Ikemoto S.
    Blood; 1994 Feb 15; 83(4):1017-23. PubMed ID: 8111043
    [Abstract] [Full Text] [Related]

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