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1996•European Journal of PediatricsRequires access

The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

F. Güttler, Per Guldberg

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Key concepts: Phenylalanine hydroxylase, Mutation, Phenotype, Genotype, Genetics, Allele, Phenylalanine, Phenylketonurias

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