An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

Ornithine transcarbamylase (OTC) is an important enzyme in the detoxification of ammonia to urea, and its deficiency is the most common inborn error of ureagenesis in humans. Among 24 cases of OTC deficiency previously examined, three unrelated individuals all showed loss of a Taq I site in the OTC...

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Bibliographic Details
Published in:J Clin Invest
Main Authors: Lee, J T, Nussbaum, R L
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 1989
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC304053/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2556444/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114360
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