| Literature DB >> 7937052 |
F Giannelli1, P M Green, S S Sommer, D P Lillicrap, M Ludwig, R Schwaab, P H Reitsma, M Goossens, A Yoshioka, G G Brownlee.
Abstract
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.Entities:
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Year: 1994 PMID: 7937052 PMCID: PMC308314 DOI: 10.1093/nar/22.17.3534
Source DB: PubMed Journal: Nucleic Acids Res ISSN: 0305-1048 Impact factor: 16.971