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

CONCLUSIONS: The PAH gene mutations in children with PKU in Yinchuan City are predominantly concentrated in exons 6, 7, and 11, with the highest detection rates observed for p.R252W and p.R261Q mutations.PMID:37553307 | DOI:10.24976/Discov.Med.202335177.54

Source: Discovery Medicine - August 8, 2023 Category: Research Authors: Xinyou Yu Fang Liu Bo Wei Meijuan Li Ruiping Lu Lihua Pan Source Type: research