Haemophilia B: database of point mutations and short additions and deletions, 7th edition.
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, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.
Giannelli
F
F
Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, UK.
Green
P M
PM
Sommer
S S
SS
Poon
M C
MC
Ludwig
M
M
Schwaab
R
R
Reitsma
P H
PH
Goossens
M
M
Yoshioka
A
A
Figueiredo
M S
MS
Brownlee
G G
GG
D016208:Databases, Factual; D005164:Factor IX / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D009154:Mutation
D005164:Factor IX