Article
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Zhao Dehua, Li Xiaole, Jia Chenlu, Ni Min, Kong Xiangdong
Abstract excerpt
OBJECTIVE: To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine hydroxylase deficiency (PAHD) in Henan Province of China, and to explore the correlation between the genotype and the phenotype. METHODS: A total of 155 affected children were recruited. Potential mutation of the PAH gene were analyzed by direct sequencing. The genotype-phenotype...
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