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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 VNTR data are used to determine rare mutations likely to be present in an investigated patient, which are then confirmed...

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Identifiers

PMID: 8533759
PMCID: PMC1801432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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