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Article

A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.

Acta paediatrica Japonica : Overseas edition - 1 Feb 1997

Nagao M

Abstract excerpt

A convenient molecular method for the detection of R413P (1238G-->C) mutation in exon 12 of the phenylalanine hydroxylase gene, one of the prevalent mutations among Japanese patients with classical phenylketonuria (PKU) is described. The mutation was previously detected by polymerase chain reaction (PCR)-direct sequencing or allele specific oligonucleotide hybridization. However, these methods were cumbersome and...

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PMID: 9124055
DOI: 10.1111/j.1442-200x.1997.tb03547.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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