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Article

[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Mar 2014

Mao Xin-Mei, He Jiang, Liu Yuan, Li Xiao-Qiang, Yu Wu-Zhong, Gao Zhi-Hui, Cai Jing

Abstract excerpt

OBJECTIVE: To investigate the type and frequency of mutations in exon 7 of phenylalanine hydroxylase (PAH) gene among children with phenylketonuria (PKU) in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region. METHODS: Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children...

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PMID: 24661517

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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