Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.

@article{Richards2001DynamicMA,
  title={Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.},
  author={Robert I. Richards},
  journal={Human molecular genetics},
  year={2001},
  volume={10 20},
  pages={2187-94}
}
The term 'dynamic mutation' was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation. The past decade has seen dynamic mutations uncovered as the molecular basis for a growing number of human genetic diseases and for all of the characterized 'rare' chromosomal fragile sites. The common properties of the repeats in different diseases and fragile sites have given insight into this unique form of DNA instability. While the dynamic… CONTINUE READING

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