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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 disequilibrium between this haplotype and the splice mutation in exon 12. The R408W mutation in exon 12 occurred on both...

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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