TY - CHAP M1 - Book, Section TI - The Population Genetics of PAH 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. PY - 2019 T2 - The Online Metabolic and Molecular Bases of Inherited Disease 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/13 UR - ommbid.mhmedical.com/content.aspx?aid=1181433674 ER -