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256 related items for PubMed ID: 9493569

  • 1. Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes.
    Rosenberg N, Dardik R, Rosenthal E, Zivelin A, Seligsohn U.
    Thromb Haemost; 1998 Feb; 79(2):244-8. PubMed ID: 9493569
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  • 2. 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; 12(8):486-95. PubMed ID: 11798398
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  • 3. 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; 93(5):904-9. PubMed ID: 15886807
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  • 6. 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; 105(2):523-31. PubMed ID: 10233432
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  • 7. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
    Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U.
    Hum Mutat; 2006 Apr; 27(4):359-69. PubMed ID: 16463284
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  • 8. A two-amino acid insertion in the Cys146- Cys167 loop of the alphaIIb subunit is associated with a variant of Glanzmann thrombasthenia. Critical role of Asp163 in ligand binding.
    Honda S, Tomiyama Y, Shiraga M, Tadokoro S, Takamatsu J, Saito H, Kurata Y, Matsuzawa Y.
    J Clin Invest; 1998 Sep 15; 102(6):1183-92. PubMed ID: 9739052
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  • 9. Glanzmann's thrombasthenia: updated.
    Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D.
    Platelets; 2002 Nov 15; 13(7):387-93. PubMed ID: 12487785
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  • 10. Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.
    Garcia LC, Breillat C, Lima M, Combrié R, Morais S, Teixera Mdos A, Campos M, Justica B, Nurden AT.
    Platelets; 2004 Feb 15; 15(1):15-22. PubMed ID: 14985172
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  • 15. A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.
    Ruiz C, Liu CY, Sun QH, Sigaud-Fiks M, Fressinaud E, Muller JY, Nurden P, Nurden AT, Newman PJ, Valentin N.
    Blood; 2001 Oct 15; 98(8):2432-41. PubMed ID: 11588040
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  • 17. Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families.
    Sandrock K, Halimeh S, Wiegering V, Kappert G, Sauer K, Deeg N, Busse E, Zieger B.
    Klin Padiatr; 2012 Apr 15; 224(3):174-8. PubMed ID: 22513797
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  • 18. Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.
    Jayo A, Pabón D, Lastres P, Jiménez-Yuste V, González-Manchón C.
    Haematologica; 2006 Oct 15; 91(10):1352-9. PubMed ID: 17018384
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  • 19. [Analysis of clinical features and genotype in three Chinese pedigrees with Glanzmann thrombasthenia].
    Jin PP, Shen WZ, Yang F, Ding QL, Wang XF, Xi XD, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2008 Mar 15; 29(3):149-53. PubMed ID: 18788610
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  • 20. A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
    Nurden AT, Ruan J, Pasquet JM, Gauthier B, Combrié R, Kunicki T, Nurden P.
    Platelets; 2002 Mar 15; 13(2):101-11. PubMed ID: 11897046
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