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Article

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.

Scandinavian journal of clinical and laboratory investigation - 1 May 2018

Zhang Zhan, Gao Jun-Jun, Feng Yang, Zhu Lin-Lin, Yan Huan, Shi Xu-Feng, Chang Ai-Min, Shi Ying, Wang Ping

Abstract excerpt

Phenylketonuria (PKU, OMIM 261600) caused by phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disease that is characterized by abnormalities of phenylalanine metabolism. In this study, a total of 77 patients, originating from the central region of China and who were diagnosed with PAH deficiency at the third affiliated hospital of Zhengzhou University, were enrolled in this study. The 13 exons...

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PMID: 29390883
DOI: 10.1080/00365513.2018.1434898

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PAH

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