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Active Error
- ... 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 ...
- ... 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 ...
- ... deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res. 1994 Sep;36(3): ...
- ... cell. Both copies of each gene are usually active, or “turned on,” in cells. In some cases, ... two copies is turned on. Which copy is active depends on their origin: some genes are normally ...
- ... probably disrupts the signaling pathway. As a result, errors may occur during development, and these errors can affect the heart, bile ducts in the ...
- ... JG, Casanova JL, Paludan SR, Mogensen TH. Inborn errors in RNA polymerase III underlie severe varicella zoster ...
- ... associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr; ...
- ... Zaccai TC. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab. 2008 Aug; ...
- ... 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( ...
- ... agreement in assessment FISH analysis to avoid diagnostic errors. Histol Histopathol. 2011 Sep;26(9):1207-13. ...