Difference between revisions of "PAH R71H"

From Bioinformatikpedia
(Literature)
(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 15:15, 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.