Article
A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.
British journal of haematology - 1 Jun 1990
Taylor S A, Liddell M B, Peake I R, Bloom A L, Lillicrap D P
Abstract excerpt
The genetic basis of a mild form of haemophilia Bm has been investigated. The patient under investigation has a mild bleeding disorder and has never experienced spontaneous bleeds. Factor IX coagulant activity (FIX:C) was 0.15 units/ml and factor IX antigen (FIX:Ag) 1.32 units/ml. The prothrombin time performed with an ox brain thromboplastin was 65 s (normal plasma 31 s). Studies of the abnormal factor IX...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
