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  • Molecular assay reagents intended to identify mutations in the phenylalanine hydroxylase (PAH) gene, located at chromosome 12q22-q24.2, which encodes for the enzyme phenylalanine hydroxylase. The enzyme is responsible for the first step in processing phenylalanine, an amino acid obtained through the diet. Mutations at this locus have been identified in patients with phenylketonuria (PKU).
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