Difference between revisions of "PAH R158Q"

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(Created page with "== Source == If a mutation was annotated in HGMD to cause phenylketonuria, it was defined as disease causing. * [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] == Literatur…")
 
 
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== Source ==
 
== Source ==
If a mutation was annotated in HGMD to cause phenylketonuria, it was defined as disease causing.
+
If a mutation was annotated to cause phenylketonuria in HGMD, it was defined as a phenylketonuria causing mutation.
 
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
 
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
   

Latest revision as of 15:42, 17 August 2011

Source

If a mutation was annotated to cause phenylketonuria in HGMD, it was defined as a phenylketonuria causing mutation.

Literature

The mutation causes phenylketonuria.

Predictions

For the mutation were several predictions done.