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Results 1 - 10 of 13 for Active Error
  1. ... an abnormally short, nonfunctional MSH6 protein; a partially active version of the protein; or no protein product from one copy of the gene. A decrease in functional MSH6 protein leads to an increase in unrepaired DNA errors during cell division. The errors accumulate as the ...
  2. ... wrong nucleotide and decreased ability to fix the error.The most common POLG gene variant in Alpers- ... pol γ. These variants result in a less active form of pol γ that has a reduced ...
  3. ... deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res. 1994 Sep;36(3): ...
  4. ... father. Usually both copies of each gene are active, or “turned on,” in cells. In some cases, ... copies is normally turned on. Which copy is active depends on the parent of origin: some genes ...
  5. ... probably disrupts the signaling pathway. As a result, errors may occur during development, and these errors can affect the heart, bile ducts in the ...
  6. ... JG, Casanova JL, Paludan SR, Mogensen TH. Inborn errors in RNA polymerase III underlie severe varicella zoster ...
  7. ... also thought to be involved in DNA replication, error repair, and other cellular processes, including helping to ... RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87( ...
  8. ... agreement in assessment FISH analysis to avoid diagnostic errors. Histol Histopathol. 2011 Sep;26(9):1207-13. ...
  9. ... Zaccai TC. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab. 2008 Aug; ...
  10. ... changes may result in the accumulation of DNA errors and cell death, although it is unclear exactly ...
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