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Article

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Genomics - 1 Jan 1991

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

Abstract excerpt

By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution...

Topics

Animals
Base Sequence
Blotting, Western
Cells, Cultured
Exons
Gene Expression
Genes
Haplotypes
Humans
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Phenylalanine Hydroxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylketonurias

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1672290
DOI: 10.1016/0888-7543(91)90238-a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1672290-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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