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: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies.
Mathews N et al.
Journal of Blood Medicine, 2021
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
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
Clinical, biochemical, and molecular aspects of Glanzmann's thrombasthenia in humans and dogs.
Boudreaux MK et al.
Veterinary Pathology, 2001
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
Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.
French DL et al.
British Journal of Haematology, 1998
Effect of mutagenesis of GPIIb amino acid 273 on the expression and conformation of the platelet integrin GPIIb-IIIa.
Kahn MJ et al.
Biochemistry, 1996
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
Poncz M et al.
The Journal of Clinical Investigation, 1994
Glanzmann's thrombasthenia: an overview.
Kannan M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0