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Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. F...
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| Veröffentlicht in: | J Genet Genomics |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4565140/ https://ncbi.nlm.nih.gov/pubmed/26059767 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jgg.2015.04.003 |
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