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Article

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

Journal of medical genetics - 1 Apr 1991

Tyfield L A, Osborn M J, Holton J B

Abstract excerpt

The phenylalanine hydroxylase gene locus has been studied in 35 independent phenylketonuric families in the south-west of England using RFLP haplotype patterns and allele specific oligonucleotide probes. Haplotype 3 was the most common pattern on mutant chromosomes and there was strict linkage di...

Topics

Alleles
DNA
Exons
Genetic Linkage
Haplotypes
Humans
Mutation
Oligonucleotide Probes
Pedigree
Phenylalanine Hydroxylase
Polymorphism, Restriction Fragment Length
United Kingdom

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Identifiers

PMID: 1677425
DOI: 10.1136/jmg.28.4.244
PMCID: PMC1016825

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1677425-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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