FAMILIAL DEFICIENCY OF ANTITHROMBIN 111: EVIDENCE FOR HETEROGENEITY EXISTING WITHIN THE FAMILY
- 1 December 1984
- journal article
- research article
- Published by Wiley in Australian and New Zealand Journal of Medicine
- Vol. 14 (6) , 835-840
- https://doi.org/10.1111/j.1445-5994.1984.tb03784.x
Abstract
An Australian family with familial antithrombin Ill (AT III) deficiency is described. The deficiency inherited in an autosomal co‐dominant manner is characterised by proportionate reduction in antigenically and biologically measured AT III. Some members with AT Ill deficiency have had major venous thromboses, and the deficiency has possibly been the cause of death in two individuals in the family. Heterogeneity was observed in laboratory and clinical findings in this family.Keywords
This publication has 27 references indexed in Scilit:
- A new familial variant of antithrombin III: ‘Antithrombin III Paris’British Journal of Haematology, 1982
- Distinction of two pathologic antithrombin III molecules: Antithrombin III ‘Aalborg’ and antithrombin III ‘Budapest’Thrombosis Research, 1982
- Hereditary Antithrombin III Deficiency in an English FamilyBritish Journal of Haematology, 1981
- Familial antithrombin III deficiency in a Japanese familyThrombosis Research, 1979
- Antithrombin III deficiency, hypertriglyceridaemia, and venous thromboses.BMJ, 1978
- Antifactor Xa Activity Measured with Amidolytic MethodsPathophysiology of Haemostasis and Thrombosis, 1976
- A New Assay for the Measurement of Total Progressive AntithrombinBritish Journal of Haematology, 1975
- Heparin cofactor activity measured with an amidolytic methodThrombosis Research, 1975
- Antithrombin-III deficiency in a Dutch familyJournal of Clinical Pathology, 1973
- Basis of the Defect in α-1-Antitrypsin DeficiencyNature, 1973