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Article

[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014

Mao Xinmei, He Jiang, Liu Yuan, Li Xiaoqiang, Yu Wuzhong

Abstract excerpt

OBJECTIVE: To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU). METHODS: For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing. RESULTS: Twenty mutations, including 8 missense mutations (40%), 5 nonsense mutations (25%), 4 splice...

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Identifiers

PMID: 24510552
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.002

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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