Haemophilia B: Database of point mutations and short additions and deletions - Eighth edition

Abstract

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.