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Article

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

American journal of human genetics - 1 Dec 1995

Zschocke J, Graham C A, Carson D J, Nevin N C

Abstract excerpt

We present a multistep approach for the rapid analysis of phenylketonuria (PKU) mutations. In the first step, three common mutations and a polymorphic short tandem repeat (STR) system are rapidly analyzed with a fluorescent multiplex assay. In the second step, minihaplotypes combining STR and VNT...

Topics

Base Sequence
Genetic Testing
Haplotypes
Humans
Ireland
Minisatellite Repeats
Molecular Sequence Data
Mutation
Phenylketonurias
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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Identifiers

PMID: 8533759
PMCID: PMC1801432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8533759-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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