Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I
Glanzmann's thrombasthenia (GT), is a rare autosomal recessive bleeding disorder. Platelets from patients with GT show quantitative or qualitative defects of the platelet membrane glycoprotein (GP) IIb/IIIa complex. A variety of genetic defects in ITGA2B and ITGB3 (genes for GPIIb and GPIIIa) h...
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| Hauptverfasser: | , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Deutsch |
| Veröffentlicht: |
31. Mai 2010
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| In: |
Klinische Pädiatrie
Year: 2010, Jahrgang: 222, Heft: 3, Pages: 150-153 |
| ISSN: | 1439-3824 |
| DOI: | 10.1055/s-0030-1249064 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1055/s-0030-1249064 Verlag, lizenzpflichtig, Volltext: https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0030-1249064 
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| Verfasserangaben: | C. Vannier, W. Behnisch, I. Bartsch, K. Sandrock, F. Ertle, K. Schmidt, A. Busse, A. Superti-Furga, A. Kulozik, S. Santoso, B. Zieger |
MARC
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| 245 | 1 | 0 | |a Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I |c C. Vannier, W. Behnisch, I. Bartsch, K. Sandrock, F. Ertle, K. Schmidt, A. Busse, A. Superti-Furga, A. Kulozik, S. Santoso, B. Zieger |
| 246 | 3 | 0 | |a Identifikation einer neuen homozygoten Mutation (c.175delG) im thrombozytären Glykoprotein ITGA2B-Gen als Ursache für Morbus Glanzmann Typ I |
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| 520 | |a Glanzmann's thrombasthenia (GT), is a rare autosomal recessive bleeding disorder. Platelets from patients with GT show quantitative or qualitative defects of the platelet membrane glycoprotein (GP) IIb/IIIa complex. A variety of genetic defects in ITGA2B and ITGB3 (genes for GPIIb and GPIIIa) has been described causing the clinical entity of GT. | ||
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