A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase (PAH). Previous studies have suggested that the highly variable metabolic phenotypes of PAH deficiency correlate with PAH genotypes. We identified both...

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Hlavní autoři: Guldberg, P, Rey, F, Zschocke, J, Romano, V, François, B, Michiels, L, Ullrich, K, Hoffmann, G F, Burgard, P, Schmidt, H, Meli, C, Riva, E, Dianzani, I, Ponzone, A, Rey, J, Güttler, F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377241/
https://ncbi.nlm.nih.gov/pubmed/9634518
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