HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 8TH EDITION

Citation
F. Giannelli et al., HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 8TH EDITION, Nucleic acids research, 26(1), 1998, pp. 265-268
Citations number
21
Categorie Soggetti
Biology
Journal title
ISSN journal
03051048
Volume
26
Issue
1
Year of publication
1998
Pages
265 - 268
Database
ISI
SICI code
0305-1048(1998)26:1<265:H-DOPM>2.0.ZU;2-P
Abstract
The eighth edition of the haemophilia B database (http://www.umds.ac.u k/molgen/haemBdataba.htm) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and shor t additions and/or deletions of <30 bp) identified in haemophilia B pa tients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activi ty, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the labo ratories generating the data are indicated.