| 1 | GT2, GT3, ITGA2B, ITGB3
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| ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
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| Nurden AT, Pillois X.
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| Platelets 29(1):98-101. doi: 10.1080/09537104.2017.1371291. Epub 2017 Nov 10. Review. No abstract available.
2018
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| 2 | GT3, ITGB3
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| Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
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| Nurden AT, Fiore M, Nurden P, Pillois X.
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| Blood 118(23):5996-6005. doi: 10.1182/blood-2011-07-365635. Epub 2011 Sep 13. Review.
2011
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| 3 | GT3, ITGB3
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| AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
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| Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.
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| Hum Mutat 31(3):237-46.PMID: 20020534 2010
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| 4 | GT2,GT3,ITGA2B,ITGB3
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| 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.
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| Gonzalez-Manchon C, et al.
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| Blood 93(3):866-75. 1999
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| 5 | GT3,ITGB3
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| Three novel integrin beta3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients.
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| Ambo H, Kamata T, Handa M, Taki M, Kuwajima M, Kawai Y, Oda A, Murata M, Takada Y, Watanabe K, Ikeda Y.
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| Biochem Biophys Res Commun 251 : 763-768. 1998
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| 6 | GT3,ITGB3
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| A Glanzmann thrombasthenia-like phenotype caused by a defect in inside-out signaling through the integrin alpha(IIb)beta3.
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| Tomiyama Y, Shiraga M, Kinoshita S, Ambo H, Kurata Y, Matsuzawa Y, Kunicki TJ.
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| Thromb Haemost 80 : 735-742. 1998
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| 7 | GT2,GT3,ITGA2B,ITGB3
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| Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb : novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
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| Ferrer M, et al.
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| Blood 92 : 4712-4720. 1998
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| 8 | GT3,ITGB3
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| Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.
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| Rosenberg N, Yatuv R, Orion Y, Zivelin A, Dardik R, Peretz H, Seligsohn U.
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| Blood 89(10):3654-62. 1997
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| 9 | GT3,ITGB3
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| 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.
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| Morel-Kopp MC, Kaplan C, Proulle V, Jallu V, Melchior C, Peyruchaud O, Aurousseau MH, Kieffer N.
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| Blood 90(2):669-77. 1997
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| 10 | GT3,ITGB3
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| Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
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| Jin Y, et al.
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| J Clin Invest 98 : 1745-1754. 1996
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| 11 | ITGA2B, GT2, GT3
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| Glanzmann thrombasthenia secondary to a Gly273-Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
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| Poncz M, et al.
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| J Clin Invest 93 : 172-179. 1994
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| 12 | ITGA2B, GT2, GT3
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| An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia.
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| Iwamoto S, et al.
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| Blood 83 : 1017-1023. 1994
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| 13 | GT3,ITGB3
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| A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIIIa (integrin beta3) Arg214 by Trp.
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| Djaffar I, et al.
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| Hum Mol Genet 2 : 2179-2180. 1993
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| 14 | GT3,ITGB3
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| A large alteration in the human platelet glycoprotein IIIa (integrin beta3) gene associated with Glanzmann's thrombasthenia.
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| Djaffar I, et al.
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| Hum Mol Genet 2 : 2183-2185. 1993
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| 15 | ITGA2B, GT2, GT3
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| Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia.
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| Gu JM, et al.
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| Br J Haematol 43 : 442-449. 1993
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| 16 | GT3,ITGB3
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| Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.
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| Li L, et al.
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| Am J Hum Genet 53 : 140-149. 1993
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| 17 | GT3,ITGB3
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| A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg-214Trp mutation.
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| Lanza F, et al.
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| J Clin Invest 89 : 1995-2004. 1992
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| 18 | ITGA2B, GT2, GT3
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| 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.
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| Kato A, et al.
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| Blood 79 : 3212-3218. 1992
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| 19 | GT3,ITGB3
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| Ser-752--Pro mutation in the cytoplasmic domain of integrin beta3 subunit and defective activation of platelet integrin alphaIIb-beta3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
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| Chen YP, et al.
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| Proc Natl Acad Sci U S A 89 : 10169-10173. 1992
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| 20 | ITGA2B, ITGB3, GT2, GT3
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| The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.
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| Newman PJ, et al.
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| Proc Natl Acad Sci U S A 88 : 3160-3164. 1991
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| 21 | ITGA2B, GT2, GT3
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| A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
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| Burk CD, et al.
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| J Clin Invest 87 : 270-276. 1991
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| 22 | GT3,ITGB3
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| Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia.
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| Bray PF, et al.
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| Blood 75 : 881-888. 1990
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| 23 | GT2,GT3,ITGA2B,ITGB3
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| Glanzmann's thrombasthenia.
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| Caen JP.
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| Bailli¸re Clin Haematol 2 : 609-625. 1989
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