''HUMANE PHENYLALANINHYDROXYLASE CDNA KLONER, HUMANE CHROMOSOMALE PHENYLALANINHYDROXYLASEGENKLONER OG FRAGMENTER DERAF, FREMGANGSMAADE TIL FREMSTILLING DERAF OG DERES ANVENDELSE VED DIAGNOSTICERING AF KLASSISK PHENYLKETONURI''

摘要

Described are full-length human phenylalanine hydroxylase cDNA clones, human chromosomal phenylalanine hydroxylase genes and fragments thereof, methods of their production, and the use of these 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 as well as other linking genetic disorders. The present invention makes possible mass screening for practically all PKU families.