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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports
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Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram
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The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS | ACS Omega
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Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram
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Identification of hepatic nuclear factor 1 binding sites in the 5′ flanking region of the human phenylalanine hydroxylase gene: Implication of a dual function of phenylalanine hydroxylase stimulator in the phenylalanine hydroxylation system
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Genes | Free Full-Text | An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
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Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria | Experimental & Molecular Medicine
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site | PLOS Genetics
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Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria | Experimental & Molecular Medicine
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