HEMOPHILIA-B (6TH EDITION) - A DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS

Citation
F. Giannelli et al., HEMOPHILIA-B (6TH EDITION) - A DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS, Nucleic acids research, 24(1), 1996, pp. 103-118
Citations number
196
Categorie Soggetti
Biology
Journal title
ISSN journal
03051048
Volume
24
Issue
1
Year of publication
1996
Pages
103 - 118
Database
ISI
SICI code
0305-1048(1996)24:1<103:H(E-AD>2.0.ZU;2-M
Abstract
The sixth edition of the haemophilia B database lists in easily access ible form all known factor IX mutations due to small changes (base sub stitutions 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 o n factor IX activity, factor IX antigen in circulation and origin of m utation. References to published mutations are given and the laborator ies generating the data are indicated.