Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994

Nucleic Acids Res. 1994 Sep;22(17):3534-46. doi: 10.1093/nar/22.17.3534.


The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 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, and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

MeSH terms

  • Databases, Factual*
  • Factor IX / genetics*
  • Hemophilia B / genetics*
  • Humans
  • Mutagenesis, Insertional
  • Mutation*
  • Point Mutation
  • Sequence Deletion


  • Factor IX