Difference between revisions of "PAH R71H"
From Bioinformatikpedia
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== Literature == |
== Literature == |
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The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria. |
The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria. |
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| − | * [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids= |
+ | * [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10356315&dopt=Abstract Mallolas (1999) Mol Genet Metab 67, 156] |
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
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Revision as of 14:19, 17 August 2011
Source
If a mutation was listed in dbSNP and not annotated in HGMD to cause phenylketonuria, it was defined as neutral.
Literature
The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.
Predictions
For the mutation were several predictions done.
