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The spectrum of phenylalanine hydroxylase (PAH) gene mutations was identified in patients with hyperphenylalaninemia(HPA) in Zhejiang, China. By using PCR amplification and DNA sequencing, 52 independent chromosomes were investigated. A total of 22 different mutations and polymorphisms have been detected, including three novel ones: IVS9nt+43G→T, IVS10nt+39G→ T, IVS10nt+97G→A. The most frequent mutations...
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