Article
Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation.
Haematologica - 1 Aug 2010
Martínez-Martínez Irene, Ordóñez Adriana, Navarro-Fernández José, Pérez-Lara Angel, Gutiérrez-Gallego Ricardo, Giraldo Rafael, Martínez Constantino, Llop Esther, Vicente Vicente, Corral Javier
Abstract excerpt
BACKGROUND: Identification of mutations in the SERPINC1 gene has revealed different mechanisms responsible for antithrombin deficiency. Deletions and nonsense mutations associate with type I deficiency. Certain missense mutations cause type II deficiency by affecting the heparin binding site or the reactive center loop, while others result in type I deficiency by intracellular retention or RNA instability. DESIGN...
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