Associated Papers
Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.
Micheloni E et al.
Acs Chemical Biology, 2025
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA et al.
Molecular Genetics and Metabolism, 2009
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
Kogo T et al.
Journal of Human Genetics, 1998
Select a paper to view details