PHENYLALANINE HYDOXYLASE CDNA CLONE, PRODUCTION THEREOF AND APPLICATION THEREOF TO DIAGNOSIS OF CLASSICAL PHENYLKETONE DISEASE

摘要

Described are phenylalanine hydroxylase cDNA clones, methods of their production, and the use of these clones in the diagnosis of the human genetic disorder, classical phenylketonuria (PKU), a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans, and the identification of heterozygous trait carriers.