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Details on Person Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations
| Class:Id | LiteratureReference:2160457 |
|---|---|
| _displayName | Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations |
| _timestamp | 2012-03-03 21:45:52 |
| author | [Person:2160451] Guldberg, P [Person:432221] Mallmann, R [Person:2160455] Henriksen, KF [Person:2160458] Güttler, F |
| created | [InstanceEdit:2160453] D'Eustachio, P, 2012-03-03 |
| journal | Hum Mutat |
| pages | 276-9 |
| pubMedIdentifier | 8889590 |
| title | Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations |
| volume | 8 |
| year | 1996 |
| (literatureReference) | [EntityWithAccessionedSequence:2160450] S40L-PAH [cytosol] [Homo sapiens] [Reaction:71118] PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr [Homo sapiens] [FailedReaction:5649483] Defective PAH does not hydroxylate L-Phe to L-Tyr [Homo sapiens] |
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No pathways have been reviewed or authored by Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations (2160457)
