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[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 1999

Wang N, Zhu Y, Xu K, Qiu Z, Song W, Huang S

Abstract excerpt

OBJECTIVE: To identify the mutations of the phenylalanine hydroxylase gene in Yunnan so as to enhance the gene diagnosis of classical phenylketonuria (PKU) in that south-western province of China. METHODS: Exons 4,5,6,7,10,11 and 12 of the phenylalanine hydroxylase(PAH) were analyzed in 13/14 children affected with classical PKU from Yunnan by using PCR-single strand conformation polymorphism (PCR-SSCP),PCR-ASO...

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PMID: 9949232

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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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