Gene mutations and inhibitor formation in patients with hemophilia B.
The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero.
Ljung
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RC
Department of Pediatrics and Coagulation Disorders, University of Lund, Malmö General Hospital, Sweden.
D005164:Factor IX / Q000235:genetics*; D005190:Family; D005260:Female; D017353:Gene Deletion; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D017395:Plasminogen Activator Inhibitor 1 / Q000096:biosynthesis; D017396:Plasminogen Activator Inhibitor 2 / Q000096:biosynthesis
D017395:Plasminogen Activator Inhibitor 1; D017396:Plasminogen Activator Inhibitor 2; D005164:Factor IX