title: Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.
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.
authors.affiliation: Paediatric Research Unit, London, UK.
authors.forename: F
authors.initials: F
authors.lastname: Giannelli
authors.forename: P M
authors.initials: PM
authors.lastname: Green
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
authors.forename: M C
authors.initials: MC
authors.lastname: Poon
authors.forename: M
authors.initials: M
authors.lastname: Ludwig
authors.forename: R
authors.initials: R
authors.lastname: Schwaab
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: A
authors.initials: A
authors.lastname: Yoshioka
authors.forename: G G
authors.initials: GG
authors.lastname: Brownlee
mesh_terms: D016208:Databases, Factual; D005164:Factor IX / Q000235:genetics / Q000378:metabolism; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D005164:Factor IX