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[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2013

Zhang Jing-jing, Sun Yun, Sun Yi-jun, Huang Mei-lian, Zhang Jin, Liang Xiao-wei, Jiang Tao, Xu Zheng-feng

Abstract excerpt

OBJECTIVE: To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia from Jiangsu province by DNA sequencing, and to analyze the spectrum of PAH gene mutations. METHODS: A total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing. RESULTS: Forty five...

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Identifiers

PMID: 24078561
DOI: 10.3760/cma.j.issn.1003-9406.2013.05.002

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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