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

F Giannelli; P M Green; S S Sommer; D P Lillicrap; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee

doi:10.1093/nar/22.17.3534

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

Nucleic Acids Res. 1994 Sep;22(17):3534-46. doi: 10.1093/nar/22.17.3534.

Authors

F Giannelli¹, P M Green, S S Sommer, D P Lillicrap, M Ludwig, R Schwaab, P H Reitsma, M Goossens, A Yoshioka, G G Brownlee

Affiliation

¹ Mayo Clinic, Rochester, MN 55905.

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.

MeSH terms

Databases, Factual*
Factor IX / genetics*
Hemophilia B / genetics*
Humans
Mutagenesis, Insertional
Mutation*
Point Mutation
Sequence Deletion

Substances

Factor IX