Difference between revisions of "PAH R71H"

From Bioinformatikpedia
(Literature)
 
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== Source ==
 
== Source ==
If a mutation was listed in dbSNP and not annotated in HGMD to cause phenylketonuria, it was defined as neutral.
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If a mutation was annotated to cause hyperphenylalaninaemia in HGMD, it was defined as a hyperphenylalaninaemia 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]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
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The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.
 
The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.
 
* [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10495930&dopt=Abstract Zekanowski (1999) Genet Test 3, 297]
 
* [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10495930&dopt=Abstract Zekanowski (1999) Genet Test 3, 297]
  +
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
   

Latest revision as of 15:41, 17 August 2011

Source

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

Literature

The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.

Predictions

For the mutation were several predictions done.