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Article

[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2015

Zhu Wenbin, Chen Hanqiang, Su Yueqing, Zhao Hong, Wang Jing, Zhou Jinfu, Chen Yao, Zen Yinglin, Lin Feng, Zhang Honghua

Abstract excerpt

OBJECTIVE: To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population. METHODS: Peripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations. RESULTS: Twenty types...

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Identifiers

PMID: 25863076
DOI: 10.3760/cma.j.issn.1003-9406.2015.02.002

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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