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[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2011

Gao Wei-hua, Zhang Quan-bin, Liu Jian-ping, Yang Jian-ping, Zhang Gai-xiu, Ma Yun-xia, Zhang Xiao-gang, Yu Liang, Zhou Yong-an

Abstract excerpt

OBJECTIVE: To study the mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase gene (PAH) in Shanxi population. METHODS: The mutations in exons 3, 6, 7, 11 and 12 and flanking sequences of PAH gene were detected by PCR-DNA sequencing, in 59 patients with phynelketonuria(PKU) and 100 healthy children from Shanxi province. RESULTS: By sequence analysis, three single nucleotide polymorphism (SNP)...

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Identifiers

PMID: 21811977
DOI: 10.3760/cma.j.issn.1003-9406.2011.04.007

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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