Associated Papers
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
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
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
Tuchman M et al.
American Journal of Medical Genetics, 1995
The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.
Tuchman M et al.
Human Mutation, 1994
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