Associated Papers
A novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B gene induces severe bleeding complications: a case report and literature review.
Xu Q et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021
Glanzmann thrombasthenia: state of the art and future directions.
Nurden AT et al.
Seminars in Thrombosis and Hemostasis, 2013
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure.
Pillois X et al.
Platelets, 2013
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
Nurden AT et al.
Blood, 2011
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
Nelson EJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Glanzmann thrombasthenia associated with a 21-amino acid deletion (Leu817-Gln837) in glycoprotein IIb due to abnormal splicing in exon 25.
Fujimoto TT et al.
International Journal of Hematology, 2004
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus.
Rosenberg N et al.
Blood, 2003
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis.
Mitchell WB et al.
Blood, 2003
A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.
Tao J et al.
British Journal of Haematology, 2000
Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.
Ambo H et al.
British Journal of Haematology, 1998
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