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1998•Journal of Human GeneticsOpen access

Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia

Masahiro Kibayashi, Minako Nagao, Shunzo Chiba

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Key concepts: Hyperphenylalaninemia, Phenylalanine hydroxylase, Phenylalanine, Mutation, Compound heterozygosity, Exon, Genetics, Phenylketonurias

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Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia — Research Paper | ScholarLens