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Haemophilia B: database of point mutations and short additions and deletions--eighth edition
F Giannelli1, P M Green, S S Sommer
1Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, UK.
Nucleic Acids Research
|February 21, 1998
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.