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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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Bibliografske podrobnosti
izdano v:J Genet Genomics
Main Authors: Caldovic, Ljubica, Abdikarim, Iman, Narain, Sahas, Tuchman, Mendel, Morizono, Hiroki
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Online dostop: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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