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Article

[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2005

Zhang Junli, Meng Jun, Zhai Xiaoping, Fang Gen, Gao Jiangang, Shi Min, Wang Yongxiang

Abstract excerpt

OBJECTIVE: To investigate the mutations of phenylalanine hydroxylase (PAH) gene in the cases of classical phenylketonuria (PKU). METHODS: The exons 3-12 of the PAH gene in 32 PKU patients from Inner Mongolia were studied by using PCR-single strand conformation polymorphism technique and DNA direct sequencing. RESULTS: Fourteen point mutations were identified. The frequencies of mutations were R243Q (12/64), Y356X...

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Identifiers

PMID: 15793771

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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