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Details on Person Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism
| Class:Id | LiteratureReference:71147 |
|---|---|
| _displayName | Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism |
| _timestamp | 2003-10-30 07:42:41 |
| author | [Person:71148] Citron, BA [Person:71125] Kaufman, S [Person:71124] Milstien, S [Person:71149] Naylor, EW [Person:71150] Greene, CL [Person:71151] Davis, MD |
| journal | Am J Hum Genet |
| pages | 768-74 |
| pubMedIdentifier | 8352282 |
| title | Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. |
| volume | 53 |
| year | 1993 |
| (literatureReference) | [Reaction:71146] 4a-hydroxytetrahydrobiopterin => q-dihydrobiopterin + H2O [Homo sapiens] |
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No pathways have been reviewed or authored by Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism (71147)
