Article
A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia.
Blood advances - 11 Jul 2023
Koukouritaki Sevasti B, Thinn Aye Myat M, Ashworth Katrina J, Fang Juan, Slater Haley S, Du Lily M, Nguyen Huong Thi Thu, Pillois Xavier, Nurden Alan T, Ng Christopher J, Di Paola Jorge, Zhu Jieqing, Wilcox David A
Abstract excerpt
This report identifies a novel variant form of the inherited bleeding disorder Glanzmann thrombasthenia, exhibiting only mild bleeding in a physically active individual. The platelets cannot aggregate ex vivo with physiologic agonists of activation, although microfluidic analysis with whole blood displays moderate ex vivo platelet adhesion and aggregation consistent with mild bleeding. Immunocytometry shows...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.