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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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Main Authors: Vannier, Corinne (Author) , Behnisch, Wolfgang (Author) , Bartsch, I. (Author) , Sandrock, K. (Author) , Ertle, Florian (Author) , Schmidt, K. (Author) , Busse, A. (Author) , Superti-Furga, A. (Author) , Kulozik, Andreas (Author) , Santoso, S. (Author) , Zieger, Barbara (Author)
Format: Article (Journal)
Language:German
Published: 31. Mai 2010
In: Klinische Pädiatrie
Year: 2010, Volume: 222, Issue: 3, Pages: 150-153
ISSN:1439-3824
DOI:10.1055/s-0030-1249064
Online Access: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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Author Notes:C. Vannier, W. Behnisch, I. Bartsch, K. Sandrock, F. Ertle, K. Schmidt, A. Busse, A. Superti-Furga, A. Kulozik, S. Santoso, B. Zieger
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Summary: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.
Item Description:Gesehen am 30.08.2023
Physical Description:Online Resource
ISSN:1439-3824
DOI:10.1055/s-0030-1249064

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