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Results 1 - 6 of 6 for DNA ligase I deficiency
Did you mean DNA lipase I deficiency?
  1. ... form with methylmalonic aciduria SUCLG1-related succinyl-CoA ligase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 Mitochondrial DNA depletion syndrome National ...
  2. ... aciduria, autosomal recessive, SUCLA2-related MTDPS5 Succinate-CoA ligase deficiency SUCLA2 deficiency SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Genetic ...
  3. ... Mogensen B, Duno M, Shoubridge EA, Wibrand F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug;81( ...
  4. ... Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype ... Citation on PubMed Ostergaard E. Disorders caused by deficiency of succinate-CoA ligase. J Inherit Metab Dis. 2008 Apr;31(2): ...
  5. ... 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, ...
  6. ... 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 ...