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- W2011097907 abstract "Summary The liver of a young girl which had been successfully transplanted was investigated at the ornithine transcarbamylase (OTC, EC 2.1.3.3) gene expression level. Northern blot hybridization using a human OTC cDNA probe showed a greater than 80% decrease in specific OTC mRNA although having the same molecular size as a normal control. OTC polypeptide was simultaneously synthesized with a normal molecular size but at a low level (20%) as shown by immunoblotting. The OTC enzyme from the deficient liver exhibited very little catalytic activity (7.2% as compared to the normal subject). These results may support several explanations of this disease such as mutation of the OTC gene promoter leading to a low transcriptional activity or mutation of the encoding sequence which results in a modified translation product but with a normal size. mRNA instability may also occur." @default.
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- W2011097907 date "1990-03-16" @default.
- W2011097907 modified "2023-09-26" @default.
- W2011097907 title "Molecular analysis of a human liver mitochondrial ornithine transcarbamylase deficiency" @default.
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- W2011097907 doi "https://doi.org/10.1007/bf01804385" @default.
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