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Article

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

Human genetics - 1 Oct 1991

Dworniczak B, Kalaydjieva L, Aulehla-Scholz C, Ullrich K, Kremensky I, Radeva B, Horst J

Abstract excerpt

A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase...

Topics

Arginine
Codon
Deoxyribonucleases, Type II Site-Specific
Exons
Germany
Haplotypes
Humans
Mutation
Phenotype
Phenylalanine Hydroxylase
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Turkey

Source

Identifiers

PMID: 1682234
DOI: 10.1007/BF00201735

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1682234-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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