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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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Bibliographic Details
Published in:J Genet Genomics
Main Authors: Caldovic, Ljubica, Abdikarim, Iman, Narain, Sahas, Tuchman, Mendel, Morizono, Hiroki
Format: Artigo
Language:Inglês
Published: 2015
Subjects:
Online Access: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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