Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency.
نویسندگان
چکیده
COAGULATION DISORDERS have represented useful clotting models. During the past decade new problems have appeared. Several conditions due to structural abnormalities of clotting factors have been described. Several dysfibrinogenemias, hemophilia B and BM variants, and factor X Friuli and other factor X variants are now well-defined clotting disorders. 1-8 Recently, two abnormal factor VII defects (factor VII Verona and Padua) have also been studied.9”#{176} There are probably five distinct congenital abnormalities, namely, prothrombin Cardeza, Barcelona, San Juan, Padua, and prothrombin Brussels.”’5 The object of the present report is to present data concerning a new congenital prothrombin abnormality. This is the second abnormality of this clotting factor described in Italy and the fourth in Europe.
منابع مشابه
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.
A large family has been studied, 11 of whose members have half-normal plasma concentrations of biological prothrombin activity. The pattern of inheritance is autosomal. By use of a specific immunoassay, affected family members have been shown to possess normal quantities of immunoreactive prothrombin, whose immunologic properties seem identical with those of the normal zymogen. Prothrombin isol...
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ورودعنوان ژورنال:
- Blood
دوره 52 1 شماره
صفحات -
تاریخ انتشار 1978