A Single F153Sβ3 Mutation Causes Constitutive Integrin αIIbβ3 Activation in a Variant Form of Glanzmann Thrombasthenia.
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DOI: 10.1182/bloodadvances.2022009495
Abstract: This report identifies a novel variant form of the inherited bleeding disorder, Glanzmann thrombasthenia (GT) exhibiting only mild bleeding in a physically active individual. The platelets cannot aggregate ex vivo with physiologic agonists of activation,… read more here.
Keywords: variant form; iib activation; glanzmann thrombasthenia; single f153s ... See more keywords