[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

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Article

[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2009

Yan You-sheng, Wang Zheng, Hao Sheng-ju, Meng Yan, Zheng Lei, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: To characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province. METHODS: Mutations of the PAH gene were detected in exons 3, 5, 6, 7, 11 and 12 with flaking introns of PAH gene by PCR and DNA sequencing. RESULTS: Mutations were identified in 45/58 alleles (detection rate: 96.4%), in total of 18 variants. Among them IVS12+5G>C was a novel...

Topics

Adult
Base Sequence
China
Exons
Female
Humans
Infant
Introns
Male
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias

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Open in PubMed

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PMID: 20017307

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