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

Nucleic acids research - 1 Jan 1997

Giannelli F, Green P M, Sommer S S, Poon M C, Ludwig M, Schwaab R, Reitsma P H, Goossens M, Yoshioka A, Figueiredo M S, Brownlee G G

Abstract excerpt

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,...

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Identifiers

PMID: 9016521
DOI: 10.1093/nar/25.1.133
PMCID: PMC146360

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