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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Citron, B A, Kaufman, S, Milstien, S, Naylor, E W, Greene, C L, Davis, M D
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1993
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682436/
https://ncbi.nlm.nih.gov/pubmed/8352282
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