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Article

[Genetic diagnosis of phenylketonuria. III. Mutations of phenylalanine hydroxylase gene in Orientals].

Rinsho byori. The Japanese journal of clinical pathology - 1 Nov 1994

Takarada Y, Yamashita K, Kagawa S, Zhang Q Z, Matsuoka A

Abstract excerpt

Phenylketonuria (PKU) is an autosomal recessive disorder caused by lesions in the phenylalanine hydroxylase (PAH) gene. The recent studies on PAH mutations show the genetic drift of PKU alleles among some Oriental populations. Therefore, we searched for PKU mutations among Japanese, Chinese and Taiwanese. Direct sequencing was conducted on DNA fragments amplified by the polymerase chain reaction, using...

Topics

Alleles
Asia
Asian People
Base Sequence
Humans
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Sequence Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7844887

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7844887-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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