RT Book, Section A1 Kidd, Judith R. A1 Kidd, Kenneth K. A2 Valle, David L. A2 Antonarakis, Stylianos A2 Ballabio, Andrea A2 Beaudet, Arthur L. A2 Mitchell, Grant A. SR Print(0) ID 1181433674 T1 The Population Genetics of PAH T2 The Online Metabolic and Molecular Bases of Inherited Disease YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071459969 LK ommbid.mhmedical.com/content.aspx?aid=1181433674 RD 2024/10/13 AB When clinical geneticists think about phenylalanine hydroxylase (PAH), they think about mutations in the gene causing phenylketonuria (PKU) and the other metabolic diseases of phenylalanine hydroxylase deficiency, their diagnosis, and their treatment. When biochemical geneticists think about PAH, they think about metabolic pathways, enzyme activity levels, and metabolic substrates and products. When population geneticists think about PAH, they think about allele frequencies of disease-causing mutations and normal polymorphisms in different populations, the patterns of these variations in the populations, and what these frequencies and patterns mean in terms of disease gene and, more broadly, human evolution. We are population geneticists, and thus we will describe our studies of normal variation in the PAH gene in populations around the world.