FENYLALANIN-HYDROKSYLASE-CDNA-KLONER, DERES FREMSTILLING OG ANVENDELSE

Fenylalaninhydroksylase-cDNA-kloner, fremgangsmåter for deres fremstilling og anvendelsen av disse klonene ved diagnosen av den genetiske sykdom hos mennesker klassisk fenylketonuri (PKU), en arvelig sykdom i fenyl-alaninmetabolismen som forårsaker permanent mental hemming hos mennesker, og identifi...

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Hauptverfasser:	LIDSKY, ALAN S, THIRUMALACHARY, T. CHANDRA, ROBSON, KATHRYN J.H, WOO, SAVIO L.C
Format:	Patent
Sprache:	nor
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA DERIVATIVES THEREOF ENZYMOLOGY HUMAN NECESSITIES HYGIENE INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PHYSICS PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES PROCESSES OF PREPARING SUCH COMPOSITIONS PROCESSES USING MICROORGANISMS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS SUGARS TESTING VINEGAR WINE
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Zusammenfassung:	Fenylalaninhydroksylase-cDNA-kloner, fremgangsmåter for deres fremstilling og anvendelsen av disse klonene ved diagnosen av den genetiske sykdom hos mennesker klassisk fenylketonuri (PKU), en arvelig sykdom i fenyl-alaninmetabolismen som forårsaker permanent mental hemming hos mennesker, og identifiseringen av heterozygotiske bærere av egenskapen. 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.