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Article

[Six novel mutations in PAH gene detected by sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2004

Zhang Zhi, He Yun-shao, Peng Shu-xin, Wang Fang-hua, Jiang Jian-hui, Jing Ren-jing, Cheng Gang, Xu Jie

Abstract excerpt

OBJECTIVE: To explore new mutation in phenylalanine hydroxylase (PAH) gene. METHODS: The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing. RESULTS: Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected. CONCLUSION: M276K, M276R,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15300621

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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