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Article

Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.

Acta paediatrica Japonica : Overseas edition - 1 Jun 1994

Yao Y, Matsubara Y, Narisawa K

Abstract excerpt

A non-radioactive single-strand conformation polymorphism (SSCP) method was used to detect various phenylketonuria (PKU) mutations in Japanese and Chinese patients. Arginine413-to-proline (R413P) mutation in exon 12 of the phenylalanine hydroxylase gene was identified in a Japanese patient by this method. The segregation of the R413P mutation in the proband's family was clearly demonstrated and the carrier status...

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Identifiers

PMID: 8091967
DOI: 10.1111/j.1442-200x.1994.tb03169.x

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

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