Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia

Deleterious mutations in the human gene phenylalanine hydroxylase ( ) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the gene in Saudi patients. We screened a cohort of 7...

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