Epigenetics and human disease.

@article{Jiang2004EpigeneticsAH,
  title={Epigenetics and human disease.},
  author={Yong-hui Jiang and Jan Bressler and Arthur L. Beaudet},
  journal={Annual review of genomics and human genetics},
  year={2004},
  volume={5},
  pages={
          479-510
        }
}
Epigenetics is comprised of the stable and heritable (or potentially heritable) changes in gene expression that do not entail a change in DNA sequence. The role of epigenetics in the etiology of human disease is increasingly recognized with the most obvious evidence found for genes subject to genomic imprinting. Mutations and epimutations in imprinted genes can give rise to genetic and epigenetic phenotypes, respectively; uniparental disomy and imprinting defects represent epigenetic disease… 
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