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Article

[Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2004

Qiu Wen-juan, Zhang Ya-fen, Ye Jun, Han Lian-shu, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase(PAH) gene. METHODS: The samples from 127 patients with phenylketonuria(PKU) were studied by polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) PCR-denaturing gradient gel electrophoresis(DGGE) and direct DNA sequencing. RESULTS: Four heterozygous mutations including R413P S411X R408W R408Q in 10 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15192831

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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