A novel Pro126His β propeller mutation in integrin αIIb causes Glanzmann thrombasthenia by impairing progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi

A novel Pro126His mutation in αIIb compromised transport of the pro-αIIbβ3 complex from the endoplasmic reticulum to the Golgi, leading to intracellular retention. The impaired αIIbβ3 transport is responsible for the thrombasthenia in this patient.