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    Thromb Diath Haemorrh. 1974 Sep 30;32(1):105-15.

    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.

    PMID:
    4454033
    [PubMed - indexed for MEDLINE]

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