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Keywords: gene mutationClose
Rong Qiang, Lin Wang, JinHua He, Wei Jie Xu, Wei Li, Na Cai, Xiao Bin Wang, RuiXue Zhang, Li Ping Zhang, Xiao Ping Ma, Chen Wei, ChengRong Song, WenWen Yu, Xiang Wang, Xu Li
Journal: Bioscience Reports
Biosci Rep (2021) 41 (2): BSR20201660.
Published: 19 February 2021
... dried blood samples from PKU families were used for clinical verification of the newly developed kit. PAH gene mutations were detected in 84 children diagnosed with PKU. A total of 159 mutant alleles were identified, consisting of 100 missense mutations, 28 shear mutations, 24 nonsense mutations, and 7...
Includes: Supplementary data