Llwytho...
Disease-causing Mutations in the Promoter and Enhancer of the Ornithine Transcarbamylase Gene
The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. About 10–15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region o...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Hum Mutat |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2018
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7388160/ https://ncbi.nlm.nih.gov/pubmed/29282796 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23394 |
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