Article
A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIb β3 to an active state.
Journal of thrombosis and haemostasis : JTH - 1 Feb 2012
Hauschner H, Mor-Cohen R, Seligsohn U, Rosenberg N
Abstract excerpt
BACKGROUND: The cytoplasmic tails of α(IIb) and β(3) regulate essential α(IIb) β(3) functions. We previously described a variant Glanzmann thrombasthenia mutation in the β(3) cytoplasmic tail, IVS14: -3C>G, which causes a frameshift with an extension of β(3) by 40 residues. OBJECTIVES: The aim of this study was to characterize the mechanism by which the mutation abrogates transition of α(IIb) β(3) from a resting...
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