Novel Gain-of-function Mutations of Platelet Glycoprotein Ib a by Valine Mutagenesis in the Cys 209 – Cys 248 Disulfide Loop FUNCTIONAL ANALYSIS UNDER STATIC AND DYNAMIC CONDITIONS *

Abstract

Platelet-type von Willebrand disease is a bleeding disorder resulting from gain-of-function mutations of glycoprotein (GP) Iba that increase its affinity for von Willebrand factor (vWf). The two known naturally occurring mutations, G233V and M239V, both enrich the valine content of an already valine-rich region within the Cys–Cys disulfide loop. We tested… (More)

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