Factor IX: Difference between revisions

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Deficiency of this glycoprotein leads to hemophilia B, a common X linked inherited coagulation disorder that affects 1 in 30, 000 males (reference 458, 464). Females are rarely affected by this disorder unless there is a mutation in the FIX gene (465, 466). The mutations that have been identified in the factor IX gene and lead to proteins reduced activity include; large and small deletions, point mutations, and missense mutations.
Deficiency of this glycoprotein leads to hemophilia B, a common X linked inherited coagulation disorder that affects 1 in 30, 000 males (reference 458, 464). Females are rarely affected by this disorder unless there is a mutation in the FIX gene (465, 466). The mutations that have been identified in the factor IX gene and lead to proteins reduced activity include; large and small deletions, point mutations, and missense mutations.


<ref name='PORCINE FACTOR IXA'>[http://www.ebi.ac.uk/pdbe-srv/view/entry/1pfx/jmol]</ref>
[http://www.ebi.ac.uk/pdbe-srv/view/entry/1pfx/jmol PORCINE FACTOR IXA]
 


== Pre-prozymogen Image ==
== Pre-prozymogen Image ==