Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

@article{Cleaver2009DisordersON,
  title={Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity},
  author={James E. Cleaver and Ernest T. Lam and Ingrid Revet},
  journal={Nature Reviews Genetics},
  year={2009},
  volume={10},
  pages={756-768}
}
Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, that involve skin cancer and developmental and neurological symptoms. These mutations cause the defective repair of damaged DNA and increased transcription arrest but, except for skin cancer, the links between repair and disease have not been obvious. Widely different clinical syndromes seem to result from mutations in the same gene… 
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