Dissemin is shutting down on January 1st, 2025

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Elsevier, Thrombosis Research: Vascular Obstruction, Hemorrhage and Hemostasis, 3(133), p. 481-487, 2014

DOI: 10.1016/j.thromres.2013.12.020

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A recurrent Gly43Asp substitution in coagulation Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellular trafficking

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Factor X (FX) deficiency is one of the most severe among recessively inherited coagulation disorders. The homozygous Gly222Asp mutation (Gly43Asp in the chymotrypsinogen numbering) on the FX gene was found in fifteen patients with severe FX deficiency (FX:C