Associated Papers
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
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
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH et al.
Journal of Human Genetics, 2015
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH et al.
Pediatric Neurology, 2014
Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
Kim GH et al.
Human Mutation, 2006
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