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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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: Jang, Yoon J., LaBella, Abigail L., Feeney, Timothy P., Braverman, Nancy, Tuchman, Mendel, Morizono, Hiroki, Ah Mew, Nicholas, Caldovic, Ljubica
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
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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