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Article

Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Somatic cell and molecular genetics - 1 May 1991

Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith R C, Güttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo S L

Abstract excerpt

A novel substitution has been characterized in the phenylalanine hydroxylase (PAH) gene that is linked exclusively to mutant haplotype 6, which is prevalent in southern Europe but rare in northern and eastern Europe. It is a G-to-A transition in intron 10, 11 bases from exon 11. This substitution creates an additional AG dinucleotide, which may serve as a cryptic splice acceptor site. Individuals who bear this...

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Source

Identifiers

PMID: 2047941
DOI: 10.1007/BF01232824

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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