Characterization of a Thrombin Cleavage Site Mutation (Arg 1689 to Cys) in the Factor VIII Gene of Two Unrelated Patients with Cross-Reacting Material-Positive Hemophilia A

The molecular defect responsible for moderate and severe hemophilia A has been identified for two unrelated patients with the CRM-positive form of this disorder (factor VIII activity of 0.02 and 0.05 U/mL with factor VIII antigen of 0.87 and 2.20 U/mL). In both cases, the immunopurified dysfunctiona...

Ausführliche Beschreibung