Article
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Human genomics - 25 Apr 2023
Zhang Chuan, Zhang Pei, Yan Yousheng, Zhou Bingbo, Wang Yupei, Tian Xinyuan, Hao Shengju, Ma Panpan, Zheng Lei, Zhang Qinghua, Hui Ling, Wang Yan, Cao Zongfu, Ma Xu
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants. METHODS: 967 PKU patients from Gansu, China were genotyped by Sanger sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing. We analyzed the variants of PAH exons, their flanking sequences, and introns. RESULTS: The detection of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.