F. Giannelli et al., HEMOPHILIA-B (6TH EDITION) - A DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS, Nucleic acids research, 24(1), 1996, pp. 103-118
The sixth edition of the haemophilia B database lists in easily access
ible form all known factor IX mutations due to small changes (base sub
stitutions and short additions and/or deletions of <30 bp) identified
in haemophilia B patients. The 1380 patient entries are ordered by the
nucleotide number of their mutation. Where known, details are given o
n factor IX activity, factor IX antigen in circulation and origin of m
utation. References to published mutations are given and the laborator
ies generating the data are indicated.