title: Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
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.
authors.affiliation: Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, 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
authors.initials: M
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: M S
authors.initials: MS
authors.lastname: Figueiredo
authors.forename: G G
authors.initials: GG
authors.lastname: Brownlee
mesh_terms: D003195:Computer Communication Networks; D016208:Databases, Factual; D005164:Factor IX / Q000235:genetics*; D017353:Gene Deletion; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D017354:Point Mutation
chemical_list: D005164:Factor IX