Article
An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.
Journal of thrombosis and haemostasis : JTH - 1 Jan 2011
Mansour W, Einav Y, Hauschner H, Koren A, Seligsohn U, Rosenberg N
Abstract excerpt
BACKGROUND: Studies of Glanzmann thrombasthenia (GT)-causing mutations has generated invaluable information on the formation and function of integrin αIIbβ(3). OBJECTIVE: To characterize the mutation in four siblings of an Israeli Arab family affected by GT, and to analyze the relationships betwe...
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