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Article

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

Human mutation - 1 Jan 1992

Dworniczak B, Kalaydjieva L, Pankoke S, Aulehla-Scholz C, Allen G, Horst J

Abstract excerpt

Complete sequence analysis of 194 human phenylalanine hydroxylase genes from PKU patients originating from West Germany and Bulgaria revealed 13 different mutations within exon 7 of the gene. Four of these mutations (T238P: ACT-->CCT; L242F:CTC-->TTC; R252G:CGG-->GGG; and 1043 delta 11: nt 1043-nt 1053 deleted) have so far not been described in the literature. Including these new mutations at least 21 different...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Bulgaria
Codon
DNA
Electrophoresis, Polyacrylamide Gel
Exons
Genes
Germany, West
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligodeoxyribonucleotides

Phenylalanine Hydroxylase

Phenylketonurias

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1363786
DOI: 10.1002/humu.1380010209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1363786-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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