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[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

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

Abstract excerpt

OBJECTIVE: To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene. METHODS: High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing. RESULTS: The results detected by HRM are in good agreement with the...

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Identifiers

PMID: 23225049
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.012

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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