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Article

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2018

Wang Ruifang, Shen Nan, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Sun Yu, Fan Yanjie, Wang Lili, Wang Yu, Gong Zhuwen, Liu Huili, Wang Jianguo, Yan Hui, Blau Nenad, Gu Xuefan, Yu Yongguo

Abstract excerpt

BACKGROUND: Hyperphenylalaninemia (HPA) is an inherited metabolic disorder that is caused by a deficiency of phenylalanine hydroxylase (PAH) or tetrahydrobiopterin. The prevalence of HPA varies widely around the world. METHODS: A spectrum of HPA candidate genes in 1020 Chinese HPA patients was reported. Sanger sequencing, next generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA)...

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Identifiers

PMID: 29499199
DOI: 10.1016/j.cca.2018.02.035

Genes

PAH
GCH1
PTS
QDPR

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