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Familial Antithrombin III Deficiency

J. H. WINTER, A. FENECH, W. RIDLEY, B. BENNETT, A. M. CUMMING, M. MACKIE, A. S. DOUGLAS
DOI: http://dx.doi.org/ 373-395 First published online: 1 January 1982

Abstract

SUMMARY Antithrombin III is the major physiological inhibitor of the coagulation mechanism and a deficiency of this protein results in a marked predisposition to venous thromboembolic disease. Three Scottish families with a deficiency of this protein are described and other reported families are reviewed. The properties, functions and methods of assay of antithrombin III are outlined; the molecular abnormalities, inheritance, clinical and laboratory characteristics of antithrombin IIIdeficiency are described, and the use of antithrombotic drugs and human antithrombin III concentrates in this deficiency is discus