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Article

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

Journal of human genetics - 1 Jan 1998

Kibayashi M, Nagao M, Chiba S

Abstract excerpt

We describe a mutation analysis for the phenylalanine hydroxylase gene and the clinical outcome of two Japanese patients with non-phenylketonuria (PKU) hyperphenylalaninemia (serum phenylalanine level below 600 mumol/l under a free diet) detected by a mass-screening program. Single strand conform...

Topics

Adolescent
DNA Mutational Analysis
Female
Genotype
Humans
Japan
Male
Mass Screening
Phenylalanine
Phenylalanine Hydroxylase
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9852673
DOI: 10.1007/s100380050079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9852673-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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