Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Molecular dynamics simulations corroborate recombinant expression studies carried out on three αIIb β-propeller mutations reported in Indian Glanzmann thrombasthenia patients.
Chandrasekaran FP et al.
Journal of Cellular Biochemistry, 2023
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
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
Pillois X et al.
British Journal of Haematology, 2016
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Nurden AT et al.
Human Mutation, 2015
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.
Pontara E et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2014
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
Jallu V et al.
Human Mutation, 2010
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
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