Article
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Scientific reports - 27 Oct 2015
Li Nana, Jia Haitao, Liu Zhen, Tao Jing, Chen Song, Li Xiaohong, Deng Ying, Jin Xi, Song Jiaping, Zhang Liangtao, Liang Yu, Wang Wei, Zhu Jun
Abstract excerpt
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU patients from mainland China. The all 13 exons and adjacent intronic regions of the PAH gene were determined by...
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