Article
Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.
Bioscience reports - 26 Feb 2021
Qiang Rong, Wang Lin, He JinHua, Xu Wei Jie, Li Wei, Cai Na, Wang Xiao Bin, Zhang RuiXue, Zhang Li Ping, Ma Xiao Ping, Wei Chen, Song ChengRong, Yu WenWen, Wang Xiang, Li Xu
Abstract excerpt
To develop a screening kit for detecting mutation hotspots of the phenylalanine hydroxylase (PAH) gene. Thirteen exons of the PAH gene were sequenced in 84 cases with phenylketonuria (PKU) diagnosed during neonatal genetic and metabolic disease screening in Shaanxi province, and their mutations were analyzed. We designed and developed a screening kit to detect nine mutation sites covering more than 50% of the PAH...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.