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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 2 patient, who was born to first-cousin parents, disclosed it to be a C-to-T transition in exon 7. This transition...

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Source

Identifiers

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

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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