Article
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Human mutation - 1 May 2015
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, Oiron Roseline D, Rand Margaret L, Sié Pierre, Trossaert Marc, Alberio Lorenzo, Martins Nathalie, Sirvain-Trukniewicz Peggy, Couloux Arnaud, Canault Mathias, Fronthroth Juan Pablo, Fretigny Mathilde, Nurden Paquita, Heilig Roland, Vinciguerra Christine
Abstract excerpt
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 aggregation. Sequencing of the coding regions and splice sites of both genes in members of 76 affected families identified 78 genetic variants (55 novel) suspected to cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.