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Article

Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.

Genomics - 1 Oct 1991

Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J

Abstract excerpt

We report a mutation within the phenylalanine hydroxylase (PAH) gene that causes aberrant splicing of the mRNA and that is in tight association with chromosomal haplotypes 6, 10, and 36. Because of the high frequency of these particular haplotypes in Bulgaria, Italy, and Turkey, it appears to be...

Topics

Base Sequence
Cell Line
DNA Mutational Analysis
Europe
Haplotypes
Humans
Introns
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

Reading Frames

Transfection

White People

Source

Identifiers

PMID: 1769645
DOI: 10.1016/0888-7543(91)90129-3

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1769645-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.PMID 1769645Read ↗

Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus.Semantic proximity Read ↗

Molecular characterization of PKU allele prevalent in southern Europe and Ireland.Semantic proximity Read ↗

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.Semantic proximity Read ↗

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.Semantic proximity Read ↗

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.Semantic proximity Read ↗

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.Semantic proximity Read ↗

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.Semantic proximity Read ↗

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.Semantic proximity Read ↗

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.Semantic proximity Read ↗

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Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.Semantic proximity Read ↗

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.Semantic proximity Read ↗

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