Associated Papers
Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.
Kosaka Y et al.
American Journal of Human Genetics, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
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
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
Kannan M et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
Peretz H et al.
Human Mutation, 2006
Select a paper to view details