Article
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.
British journal of haematology - 1 Oct 2004
Wynne Jones D, Russell Geoffrey, Allford Sarah L, Burdon Kathryn, Hawkins Gregory A, Bowden Donald W, Minaee Sophie, Mumford Andrew D
Abstract excerpt
An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were <5 u/dL. Molecular analysis showed a homozygous Arg94Stop substitution in the PK gene, predicted to prevent expression of the mutant allele. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.