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DNA ligase I deficiency
Did you mean DNA lipase I deficiency?
- ... encephalomyopathic form, with methylmalonic aciduria Succinate-coenzyme A ligase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 Genetic Testing Registry: Mitochondrial DNA ...
- ... mitochondrial DNA. Having an adequate amount of mitochondrial DNA is essential for normal energy production within cells. At least two mutations in the SUCLG1 gene have been identified in people with succinate-CoA ligase deficiency. One mutation has been found to cause a ...
- ... mitochondrial DNA. Having an adequate amount of mitochondrial DNA is essential for normal energy production within cells. At least four mutations in the SUCLA2 gene have been identified in people with succinate-CoA ligase deficiency. Each of these mutations alters the structure of ...
- Mitochondrial Diseases (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ... and cancer-causing compounds (carcinogens), and helps build DNA, proteins, and other important cellular components. More than 30 mutations in the GSS gene have been identified in people with glutathione synthetase deficiency. Characteristic features of this condition include the abnormal ...
- ... group 8 excision repair cross-complementing rodent repair deficiency, complementation group 8 Tests of ERCC8 PubMed ERCC EXCISION REPAIR 8, CSA UBIQUITIN LIGASE COMPLEX SUBUNIT; ERCC8 NCBI Gene ClinVar Bertola DR, ...
