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A Molecular View of Phenylketonuria

A Molecular View of Phenylketonuria. By: Sindhu Kilakkathi. What is Phenylketonuria (PKU)?. Autosomal recessive genetic disorder (Incidence: 1/10,000 newborns) Mutation of Phenylalanine hydroxylase (PAH) gene on chromosome 12 1 Lack of PAH, defective PAH, insufficient BH 4. PAH.

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A Molecular View of Phenylketonuria