and antigen indicating a CRM- defect that is similar to most. (Hathaway et al, 1965; ... peptide corresponding to only the first apple domain of PK without the ...
short report
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation
D. Wynne Jones,1 Geoffrey Russell,2 Sarah L. Allford,2 Kathryn Burdon,3 Gregory A. Hawkins,3 Donald W. Bowden,3 Sophie Minaee4 and Andrew D. Mumford4 1
Department of Biosciences, University of Kent
and Kent Haemophilia Centre, Kent & Canterbury Hospital, Canterbury, Kent, UK, 2
Department of Haematology, Frenchay Hospital,
Bristol, UK, 3Centre for Human Genomics and Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA and 4Department of Haematology, Bristol Royal Infirmary, Bristol, UK
Summary 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
