Article
Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2014
Aguila S, Navarro-Fernández J, Bohdan N, Gutiérrez-Gallego R, de la Morena-Barrio M E, Vicente V, Corral J, Martínez-Martínez I
Abstract excerpt
BACKGROUND: The characterization of natural mutants identified in patients with antithrombin deficiency has helped to identify functional domains or regions of this key anticoagulant and the mechanisms involved in the deficiency, as well as to define the clinical prognosis. Recently, we described an abnormal glycosylation in a pleiotropic mutant (K241E) that explained the impaired heparin affinity and the mild...
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