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[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Wang Feng-yu, Shao Chu-jun, Feng Hui-gen, Li Cong-min

Abstract excerpt

OBJECTIVE: To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis. METHODS: All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34...

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Identifiers

PMID: 21154324
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.009

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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