Article
A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population.
Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021
Shao Binbin, Liu An, Zhang Jingjing, Wang Yan, Qiao Fengchang, Zhang Cuiping, Zhu Yuqing, Lin Yingchun, Hu Ping, Tao Tao, Jiang Zhengwen, Tan Jianxin, Xu Zhengfeng
Abstract excerpt
BACKGROUND AND AIMS: Hyperphenylalaninemia (HPA) is a common autosomal recessive disorder of phenylalanine metabolism, mainly caused by the deficiency of phenylalanine hydroxylase gene (PAH). A simple, fast, and accurate assay to achieve early diagnosis for children with HPA is required. MATERIALS AND METHODS: In the present study, we established a SNaPshot-based assay that allows the simultaneous genotyping of...
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