Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

• Main Authors: Ning Liu (Author), Qiuying Huang (Author), Qingge Li (Author), Dehua Zhao (Author), Xiaole Li (Author), Lixia Cui (Author), Ying Bai (Author), Yin Feng (Author), Xiangdong Kong (Author)
• Format: Bog
• Udgivet: BMC, 2017-10-01T00:00:00Z.
• Fag: article
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Abstract Background Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity...