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Article

Identification of a new missense mutation in Japanese phenylketonuric patients.

Journal of inherited metabolic disease - 1 Jan 1993

Goebel-Schreiner B, Schreiner R

Abstract excerpt

A new missense mutation in the phenylalanine hydroxylase (PAH) gene was identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island. The point mutation was present in 20 of 40 mutant alleles. This was proved by DNA sequence analysis after polymerase chain reaction (PCR) amplification and allele-specific oligonucleotide (ASO) hybridization. This point...

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Source

Identifiers

PMID: 8068076
DOI: 10.1007/BF00711510

Genes

PAH

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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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