PHENYLALANINE HYDROXYLASE CDNA CLONES, THEIR METHODS OF PRODUCTION AND USE IN DIAGNOSING CLASSICAL PHENYLKETONURIA

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...

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Hauptverfasser: LIDSKY, ALAN S, ROBSON, KATHRYN J.H. NUFFIELD DEPARTMENT OF, THIRUMALACHARY, T. CHANDRA, WOO, SAVIO L.C
Format: Patent
Sprache:eng
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Zusammenfassung: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.