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Nucleic Acids Res. 1998 Jan 1;26(1):265-8.

Haemophilia B: database of point mutations and short additions and deletions--eighth edition.

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  • 1Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, UK.

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.

PMID:
9399849
[PubMed - indexed for MEDLINE]
PMCID:
PMC147172
Free PMC Article
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