Glanzmann Thrombasthenie
Die Glanzmann-Thrombasthenie ist eine seltenes autosomal rezessives thrombozytäres Blutungsübel, welche aus der Unfähigkeit von Thrombozyten Fibrinogen zu binden und Aggregate zu bilden resultiert. Zugrunde liegt ein Defekt im Glycoproteinkomplex IIb-IIIa, welcher durch Mutationen in einem der Gene ITGA2B oder ITGB3 entstehen kann.
Gliederung
Referenzen:
1. |
Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. [^] |
2. |
Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation. [^] |
3. |
Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. [^] |
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. [^] |
5. |
Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. [^] |
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. [^] |
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. [^] |
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. [^] |
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. [^] |
10. |
Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. [^] |
11. |
Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. [^] |
12. |
Nurden AT et al. (2005) Qualitative disorders of platelets and megakaryocytes. [^] |
13. |
Nurden AT et al. (2006) Glanzmann thrombasthenia. [^] |