PHENYLALANINHYDROXYLASE CDNA KLONER, FREMGANGSMAADE TIL FREMSTILLING DERAF OG DIAGNOSTISK ANVENDELSE DERAF

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.