F. Giannelli et al., HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 8TH EDITION, Nucleic acids research, 26(1), 1998, pp. 265-268
The eighth edition of the haemophilia B database (http://www.umds.ac.u
k/molgen/haemBdataba.htm) lists in an easily accessible form all known
factor IX mutations due to small changes (base substitutions and shor
t additions and/or deletions of <30 bp) identified in haemophilia B pa
tients. The 1713 patient entries are ordered by the nucleotide number
of their mutation. Where known, details are given on: factor IX activi
ty, factor IX antigen in circulation, presence of inhibitor and origin
of mutation. References to published mutations are given and the labo
ratories generating the data are indicated.