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February 1991 in “FEBS Letters” The study introduced the rat ornithine transcarbamylase (OTC) gene into OTC-deficient spf-ash mice, resulting in significant improvements in enzyme activity and metabolic markers. Hemizygous spf-ash mice with the transgene exhibited liver OTC activity about twice that of nontransgenic counterparts and small intestinal OTC activity 6 times higher, reaching 12% and 27% of control levels, respectively. These transgenic mice displayed normal hair growth, nearly normalized urinary orotic acid excretion, and normalized serum citrulline concentration, indicating a successful correction of the OTC deficiency.
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