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[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].

Zhonghua yi xue za zhi - 15 Nov 2011

Lu Chao-xia, Gao Xia, Wang Jin-wei, Zhang Mei, Zhu Hong-wen, Sun Jing, Xiao Ji-fang, Yang Wei, Zhao Xiu-li, Qi Zhan, Zhang Xue

Abstract excerpt

OBJECTIVE: To identify the pathogenic mutations of phenylalanine hydroxylase gene (PAH) in patients with phenylketonuria (PKU) from Hebei Province. METHODS: Genomic DNA was extracted from 55 unrelated PKU patients from September 2007 to July 2009. All PAH exons and exon-intron junctions were amplified by polymerase chain reaction (PCR) and sequenced. Multiplex ligation-dependent probe amplifications (MLPA) was...

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PMID: 22333022

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.

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