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Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

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第一作者： Tao, Yilun

作者： Tao, Yilun ^[1] ; Han, Dong ; Shen, Huiyi ; Li, Xiaoze

作者单位： Changzhi Maternal & Child Hlth Care Hosp, Med Genet Ctr, 38 Weiyuanmen Rd, Changzhi 046000, Shanxi ^[1]

关键词 Hyperphenylalaninemia Mutational spectrum Genotype-Phenotype correlation Allelic phenotype value Genotypic phenotype value

发布时间 2021-04-23

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Brain & Development

2021年43卷2期

220-229页

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Brain & Development

2021年43卷2期

220-229页

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Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Brain & Development

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Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Brain & Development

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Brain & Development

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