Difference between revisions of "PAH R71H"
From Bioinformatikpedia
(→Literature) |
|||
| Line 6: | Line 6: | ||
== Literature == |
== Literature == |
||
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.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
||
Revision as of 14:15, 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.
