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Article

A new single base substitution in a Japanese phenylketonuria (PKU) patient.

Brain & development - 1 Jul 1991

Shirahase W, Oya N, Shimada M

Abstract excerpt

DNA analysis on phenylalanine hydroxylase (PAH) gene was performed in four Japanese PKU patients. By the Southern analysis, three patients were confirmed to be homozygous for haplotype 4, and the other one was homozygous for haplotype 2. Sequence analysis on the mutant PAH gene of this haplotype...

Topics

Base Sequence
Haplotypes
Humans
Japan
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1683521
DOI: 10.1016/s0387-7604(12)80064-7

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1683521-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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