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- W1978907514 abstract "The cloning of cDNAs for phenylalanine hydroxylase (PAH) from rat and human livers has let to major advances in understanding the structure and function of this metabolically important enzyme and its deficiency state, phenylketonuria (PKU). The nucleic acid and amino acid sequences of human PAH have been deduced, its genomic locus has been cloned, and mutations at the locus in PKU patients have been examined. Gene transfer experiments result in enzyme activity in cells that do not normally produce PAH, suggesting that somatic gene therapy for PKU may be feasible." @default.
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- W1978907514 date "1985-01-01" @default.
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- W1978907514 title "Molecular biology of phenylalanine hydroxylase and phenylketonuria" @default.
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- W1978907514 doi "https://doi.org/10.1016/0168-9525(85)90121-0" @default.
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