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

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

doi:10.1093/nar/24.1.103

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

Nucleic Acids Res. 1996 Jan 1;24(1):103-18. doi: 10.1093/nar/24.1.103.

Authors

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

Affiliation

¹ Paediatric Research Unit, London, UK.

Abstract

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.

MeSH terms

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

Substances

Factor IX