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Article

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.

European journal of human genetics : EJHG - 1 Sept 2002

O'Donnell Kate A, O'Neill Charles, Tighe Orna, Bertorelle Giorgio, Naughten Eileen, Mayne Philip D, Croke David T

Abstract excerpt

Phenylketonuric and hyperphenylalaninaemic patients in the population of the Republic of Ireland were screened for mutations at the human phenylalanine hydroxylase (PAH) locus. A composite data set for the island of Ireland was generated by merging the findings of this study with extant data for Northern Ireland. Analysis of this data on the basis of the four historic provinces (Munster, Leinster, Connacht and...

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Source

Identifiers

PMID: 12173030
DOI: 10.1038/sj.ejhg.5200841

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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