Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.

Xinyou Yu, Fang Liu, Bo Wei, Meijuan Li,Ruiping Lu,Lihua Pan

Discovery medicine（2023）

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摘要

The gene mutations in children with PKU in Yinchuan City are predominantly concentrated in , , and , with the highest detection rates observed for p.R252W and p.R261Q mutations.

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关键词

phenylalanine hydroxylase gene,phenylketonuria,mutation characteristics

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