Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

Autor: Nathalie Martins, Peggy Sirvain-Trukniewicz, Margaret L. Rand, Marc Trossaert, Jenny Goudemand, Paquita Nurden, Mathieu Fiore, Schéhérazade Benabdallah‐Guerida, Roseline d Oiron, Pierre Sié, Marie-Christine Alessi, Juan Pablo Fronthroth, Mathias Canault, Lorenzo Alberio, Christine Vinciguerra, Mathilde Fretigny, Diane J. Nugent, Mariana Bonduel, Alan T. Nurden, Claude Negrier, Véronique Latger-Cannard, Xavier Pillois, Arnaud Couloux, Yves Gruel, Roland Heilig, Marie Dreyfus

Publikováno v: Human Mutation
Human Mutation, Wiley, 2015, 36 (5), pp.548-561. ⟨10.1002/humu.22776⟩
Nurden, Alan T; Pillois, Xavier; Fiore, Mathieu; Alessi, Marie-Christine; Bonduel, Mariana; Dreyfus, Marie; Goudemand, Jenny; Gruel, Yves; Benabdallah-Guerida, Schéhérazade; Latger-Cannard, Véronique; Négrier, Claude; Nugent, Diane; d'Oiron, Roseline; Rand, Margaret L; Sié, Pierre; Trossaert, Marc; Alberio, Lorenzo; Martins, Nathalie; Sirvain-Trukniewicz, Peggy; Couloux, Arnaud; ... (2015). Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Human mutation, 36(5), pp. 548-561. Wiley-Blackwell 10.1002/humu.22776
Human Mutation, Wiley, 2015, 36 (5), pp.548-561. 〈10.1002/humu.22776〉
Human Mutation, 2015, 36 (5), pp.548-561. ⟨10.1002/humu.22776⟩

We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of platelet aggr

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