Article
Haemophilia B carrier detection by factor IX:C analysis; no impact of the type of mutation or severity of disorder.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 1999
Knobe K E, Ljung R C
Abstract excerpt
Haemophilia B, an X-linked recessive bleeding disorder characterized by lack or deficiency of factor IX, has been shown to be caused by any of a variety of DNA abnormalities (partial or total deletions, nonsense or missense mutations). Since in most countries carrier detection is based on factor IX coagulant activity (FIX:C) assay, this study was designed to determine whether carriers' FIX:C values are dependent...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
