Associated Papers
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Cen Z et al.
Orphanet Journal of Rare Diseases, 2025
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
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Azevedo L et al.
Annals of Human Genetics, 2006
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
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