Haemophilia B: database of point mutations and short additions and deletions--eighth edition

The eighth edition of the haemophilia B database (http://www.umds.ac.uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated. Haemophilia B, or Christmas disease, is an X-linked recessive disorder due to mutations causing marked deficit of coagulation factor IX—a glycoprotein of 415 amino acid residues normally present in plasma and an essential component of the clotting cascade. The disease affects one in ∼30 000 males and only very rarely females. Thereducedgenetic fitnessof affectedindividuals has resul...

• Type: Journal
• Year: 1998
• Where: NAR
• Authors: F. Giannelli, P. M. Green, S. S. Sommer, M.-C. Poon, M. Ludwig, Rainer Schwaab, Pieter H. Reitsma, M. Goossens, A. Yoshioka, M. S. Figueiredo, George G. Brownlee
• Keywords: Factor Ix, Haemophilia B, Mutations, NAR 1998