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Article

Recurrent mutation in the human phenylalanine hydroxylase gene.

American journal of human genetics - 1 May 1990

Okano Y, Wang T, Eisensmith R C, Güttler F, Woo S L

Abstract excerpt

We report the identification of a missense mutation of Glu280 to Lys280 in the phenylalanine hydroxylase (PAH) gene of a phenylketonuria (PKU) patient in Denmark. The mutation is associated with haplotype 1 of the PAH gene in this population. This mutation has previously been found in North Africa, where it is in linkage disequilibrium with haplotype 38. While it is conceivable that this mutation could have been...

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Identifiers

PMID: 1971144
PMCID: PMC1683594

Genes

PAH

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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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