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Article

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2007

Song Fang, Qu Yu-jin, Yang Yan-ling, Jin Yu-wei, Zhang Yu-min, Wang Hong, Yu Wu-zhong

Abstract excerpt

OBJECTIVE: To understand the mutant spectrum of phenylalanine hydroxylase (PAH) gene in Northern Chinese. METHODS: All the exons and flaking introns of PAH gene were detected by PCR-single strand conformation polymorphism (PCR/SSCP) and sequencing in 230 patients with phenylketonuria (PKU). RESULTS: (1) A total of 75 different mutations were detected in 435 out of 460 mutant alleles (94.6%). Among them 3...

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PMID: 17557229

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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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