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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...

Topics

Alleles
Base Sequence
DNA Probes
Gene Frequency
Genotype
Haplotypes
Humans
Ireland
Italy
Molecular Sequence Data
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Phenylalanine Hydroxylase

Phenylketonurias

Prevalence

Turkey

Source

Identifiers

PMID: 2047941
DOI: 10.1007/BF01232824

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2047941-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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