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Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient

Huang, YQ; Yang, F; Zhu, JP; Qiu, JG; Li, YL; Zhang, L; Li, HF; Zhang, YL; Qin, SY

Zhang, YL (corresponding author), Women & Childrens Hlth Care Hosp Linyi, Dept Pediat, 1 South Qinghe Rd, Linyi 276001, Shandong, Peoples R China.

GENE REPORTS, 2020; 21 ():

Abstract

Genetic analysis of 111 patients with phenylketonuria or hyperphenylalaninemia has uncovered a novel 8 bp deletion variant in the phenylalanine hydrox......

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