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. 1994 Sep;22(17):3534–3546. doi: 10.1093/nar/22.17.3534

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

F Giannelli 1, P M Green 1, S S Sommer 1, D P Lillicrap 1, M Ludwig 1, R Schwaab 1, P H Reitsma 1, M Goossens 1, A Yoshioka 1, G G Brownlee 1
PMCID: PMC308314  PMID: 7937052

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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