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- Title
Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
- Authors
Giannelli, F; Green, P M; Sommer, S S; Poon, M; Ludwig, M; Schwaab, R; Reitsma, P H; Goossens, M; Yoshioka, A; Figueiredo, M S; Brownlee, G G
- 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.
- Publication
Nucleic acids research, 1998, Vol 26, Issue 1, p265
- ISSN
0305-1048
- Publication type
Journal Article
- DOI
10.1093/nar/26.1.265