A Swedish family with abnormal antithrombin III.
An abnormal variant of antithrombin III is reported in a young male with deep vein thrombosis. The heparin cofactor, progressive thrombin inhibition, and factor Xa inactivation are decreased. The abnormality seems to be a mutation which is transmitted in an autosomaldominant way. The half-life and fractional catabolic rate of 125I antithrombin III concentrate is the same in this patient as in patients with the classic type of antithrombin III deficiency and in a control.
D000328:Adult; D000990:Antithrombin III / Q000032:analysis / Q000235:genetics*; D002648:Child; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010375:Pedigree; D013548:Sweden; D013924:Thrombophlebitis / Q000097:blood* / Q000235:genetics
D000990:Antithrombin III