Repeat instability: mechanisms of dynamic mutations

@article{Pearson2005RepeatIM,
  title={Repeat instability: mechanisms of dynamic mutations},
  author={C. E. Pearson and K. Edamura and J. Cleary},
  journal={Nature Reviews Genetics},
  year={2005},
  volume={6},
  pages={729-742}
}
Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins. Repeat instability probably involves the formation of unusual DNA structures during… Expand
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