Article
[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014
Qiang Rong, Yu Wuzhong, Cai Na, Wang Xiaobin, Qin Cuiyun, Zhang Liping, Ma Xiaoping, Wang Lin, Shi Xuanxing, Liu Hui, Li Xu, Wang Xiang, He Jiang
Abstract excerpt
OBJECTIVE: To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi. METHODS: For 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing. RESULTS: A total of 98 mutations were...
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