Glanzmann thrombasthenia is a rare autosomal recessive bleeding disorder as a result of platelet's inability to bind fibrinogen and form clots. This failure is caused by glycoprotein IIb-IIIa complex deficiency. Underlying mutations can be found in two distinct genes, ITGA2B and ITGB3.
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Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. |
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Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation. |
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Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. |
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Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. |
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Wilcox DA et al. (1994) A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. |
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Schlegel N et al. (1995) The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. |
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Poncz M et al. (1994) Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. |
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Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. |
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Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. |
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None (2005) Qualitative disorders of platelets and megakaryocytes. |
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None (2006) Glanzmann thrombasthenia. |
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OMIM.ORG article Omim 273800 |
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Orphanet article Orphanet ID 849 |
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Wikipedia article Wikipedia EN (Glanzmann's_thrombasthenia) |