HaemB -- A database of point mutations and short additions and deletions in the factor IX gene

URL:

http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html

What you can do:

Search for known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients.

Highlights:

The haemophilia B database 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.
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.
In version 13 (2004), there are nearly 3000 patient entries in the database,

Keywords:

hemophilia B mutations
human blood coagulation factor IX mutants
human factor IX mutation
human factor IX polymorphisms
human factor IX variants
human genetic variations
human disease genes

Literature & Tutorials:

PubMed Link: Haemophilia B: database of point mutations and short additions and deletions
Web Link of latest update: The Haemophilia B Mutation Database x96 version 13, 2004

This record last updated: 06-28-2006

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