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• W1985849303 abstract "The expression and activity of phenylalanine hydroxylase was studied in the liver of a fetus aborted after prenatal diagnosis of phenylketonuria. No phenylalanine hydroxylase enzymatic activity or immunoreactive protein was detectable in the PKU liver specimen, though both enzymatic activity and immunoreactive protein were detectable in control specimens of similar gestational age. Phenylalanine hydroxylase messenger RNA of normal size was present in the PKU fetal liver at normal abundance. These results confirm the genetic diagnosis of PKU in this fetus and indicate that the mutations in this fetus affect translation or stability of the phenylalanine hydroxylase protein." @default.
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• W1985849303 date "1988-09-01" @default.
• W1985849303 modified "2023-09-27" @default.
• W1985849303 title "Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria" @default.
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• W1985849303 doi "https://doi.org/10.1016/s0022-3476(88)80629-2" @default.
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• W1985849303 hasPublicationYear "1988" @default.
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