Associated Papers
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
Nguyen HH et al.
Frontiers in Pediatrics, 2020
32793520 (PubMed )
Supplement: Table_3.DOCX
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 (OTC) gene.
Yamaguchi S et al.
Human Mutation, 2006
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
Climent C et al.
Human Mutation, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Oppliger Leibundgut EO et al.
Human Mutation, 1996
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