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== Source == 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.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] == Literature == The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria. * [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=8268925&dopt=Abstract Guldberg (1993) Hum Mol Genet 2, 1703] * [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] * [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] == Predictions == For the mutation were several predictions done. * [[Task 6: Sequence-based mutation analysis]] * [[Task 7: Structure-based mutation analysis]] * [[Task 9: Normal Mode Analysis]]

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