Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Hyperphenylalaninemias represent a major class of inherited metabolic disorders. They are most often caused by mutations in the phenylalanine hydroxylase gene and, less frequently but with usually more serious consequences, in genes necessary for the synthesis and regeneration of the cofactor, tetra...

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Hauptverfasser: Citron, B A, Kaufman, S, Milstien, S, Naylor, E W, Greene, C L, Davis, M D
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682436/
https://ncbi.nlm.nih.gov/pubmed/8352282
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