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
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.
Ali EZ et al.
Biomed Research International, 2018
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Shimadzu M et al.
Human Mutation, 1998
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Matsuda I et al.
American Journal of Medical Genetics, 1997
[Gene therapy for ornithine transcarbamylase deficiency].
Matsuda I et al.
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1995
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