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[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2009

Yu Wu-zhong, Qiu Dong-hui, Song Fang, Liu Li, Liu Shao-ming, He Xin-jian, Jin Yu-wei, Zhang Yan-ling, Zou Hong-yun, He Jiang, Lei Quan, Liu Xing-wen

Abstract excerpt

OBJECTIVE: To study the characteristics of the PAH gene mutation in patients with phenylketonuria (PKU) in Xinjiang area. METHODS: The mutations in exons 3, 5, 6, 7, 11 and 12 and the flanking intronic sequence of the PAH gene were detected by PCR/SSCP analysis and direct DNA sequencing in 46 PKU patients. RESULTS: Twenty different mutations were found in 68/92 alleles (73.9%). The prevalent mutations of R243Q,...

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Identifiers

PMID: 19199246
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.006

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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