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Nucleic Acids Research, Vol 24, Issue 1 103-118, Copyright © 1996 by Oxford University Press

ARTICLES

Haemophilia B (sixth edition): a database of point mutations and short additions and deletions

F Giannelli, PM Green, SS Sommer, MC Poon, M Ludwig, R Schwaab, PH Reitsma, M Goossens, A Yoshioka and GG Brownlee
Paediatric Research Unit, London, UK.

The sixth 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 1380 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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