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. 1997 Jan 1;25(1):133–135. doi: 10.1093/nar/25.1.133

Haemophilia B: database of point mutations and short additions and deletions, 7th edition.

F Giannelli 1, P M Green 1, S S Sommer 1, M C Poon 1, M Ludwig 1, R Schwaab 1, P H Reitsma 1, M Goossens 1, A Yoshioka 1, M S Figueiredo 1, G G Brownlee 1
PMCID: PMC146360  PMID: 9016521

Abstract

The seventh 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 <30 bp) identified in haemophilia B patients. The 1535 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.

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Selected References

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