> Reagents, Molecular Assay, Gene Anomaly, Mutation, PAH
Reagents, Molecular Assay, Gene Anomaly, Mutation, PAH
Definition : 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).
Entry Terms : "Variant Phenylketonuria Gene Mutation Reagents" , "Hyperphenylalaninemia (HPA) Gene Mutation Reagents" , "Phenylketonuria (PKU) Gene Mutation Reagents" , "Phenylalanine Hydroxylase (PAH) Deficiency Gene Mutation Reagents" , "PAH Gene Mutation Detection Reagents"
UMDC code : 24650
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