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

Article

[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 chi...

Topics

Child
China
Exons
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias

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