Integrin, alpha-2B
Das ITGA2B-Gen kodiert eine wichtige Komponente des Glycoprotein IIb-IIIa Komplexes, welcher für die Bindung von Fibrinogen und die Aggregation von Thrombozyten verantwortlich ist. Mutationen verursachen die selten autosomal rezessive Glanzmann-Thrombasthenie dagegen sind Polymorphismen für die Alloimmun-Thrombozytopenie verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
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2. |
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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3. |
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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4. |
Kato A et al. (1992) 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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5. |
Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
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6. |
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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7. |
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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8. |
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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9. |
Basani RB et al. (1996) Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.
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10. |
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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11. |
Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
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12. |
Orphanet article
Orphanet ID 122690
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13. |
NCBI article
NCBI 3674
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14. |
OMIM.ORG article
Omim 607759
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15. |
Wikipedia Artikel
Wikipedia DE (Integrin_α-IIb)
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Update: 14. August 2020