What is the genetics for Phenylketonuria (PKU)?

(e.g., dominance, gene location). Please cite sources!

PKU is caused by more than 450 different mutations of the PAH (phenylalanine hydroxylase) gene and is inherited in an autosomal recessive pattern. The PAH gene is located on the long (q) arm of chromosome 12 between positions 22 and 24.2.

For more information on PKU, refer to the first source below. For specifics on the common mutations and the location of the PAH gene, refer to the second source below.

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