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Article

Molecular analysis of PKU in Ireland.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994

O'Neill C A, Eisensmith R C, Croke D T, Naughten E R, Cahalane S F, Woo S L

Abstract excerpt

Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent...

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Source

Identifiers

PMID: 7766956
DOI: 10.1111/j.1651-2227.1994.tb13448.x

Genes

PAH

Variants

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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