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FORBEDREDE FENYLALANIN-HYDROKSYLASE-CDNA-KLONER, DERES FREMSTILLING OG ANVENDELSE
FORBEDREDE FENYLALANIN-HYDROKSYLASE-CDNA-KLONER, DERES FREMSTILLING OG ANVENDELSE
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机译:改进的苯丙氨酸羟化酶CDNA克隆,制备及用途
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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.
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