A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria
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Background: The PAH gene mutations have been linked to the development of phenylketonuria (PKU), which is recognized as the most common inborn metabolic disorder, and is caused by a deficiency in the phenylalanine hydroxylase (PA... ...
