Abnormal antithrombin III (antithrombin III "Budapest") as a cause of a familial thrombophilia.

Abstract	A family with a high incidence of spontaneous thromboembolism has been investigated and those members affected were found to have significantly depressed levels of plasma and serum heparin cofactor activity; i.e., antithrombin III and anti-Xa activity. Further studies revealed that despite a marked diminution of antithrombin III activity in these patients measurement of antithrombin III by immunological techniques showed the levels to be normal. It is concluded that this anomaly represents a defect in the synthesis of the antithrombin III molecule. The abnormality appeared to be inherited but the mode of inheritance could not be determined with the available data.
Authors	G Sas, G Blaskó, D Bánhegyi, J Jákó, L A Pálos
Journal	Thrombosis et diathesis haemorrhagica (Thromb Diath Haemorrh) Vol. 32 Issue 1 Pg. 105-15 (Sep 30 1974) ISSN: 0340-5338 [Print] Germany
PMID	4454033 (Publication Type: Journal Article)
Chemical References	Antithrombins Bentonite Barium Sulfate Antithrombin III Factor X Fibrinogen Heparin Thrombin
Topics	Adsorption Antithrombin III (metabolism) Antithrombins (analysis, deficiency) Barium Sulfate Bentonite Blood Coagulation Tests Blood Sedimentation Factor X (antagonists & inhibitors) Fibrinogen Fibrinolysis Heparin Humans Male Pedigree Thrombin Thromboembolism (etiology, genetics)

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