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10.1186/s13148-016-0207-4

http://scihub22266oqcxt.onion/10.1186/s13148-016-0207-4
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suck abstract from ncbi


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pmid27096027
      Clin+Epigenetics 2016 ; 8 (ä): 39
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  • Defining the criteria for identifying constitutional epimutations #MMPMID27096027
  • Sloane MA ; Ward RL ; Hesson LB
  • Clin Epigenetics 2016[]; 8 (ä): 39 PMID27096027 show ga
  • In the January 2016 issue of Clinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of the RB1 gene as a cause of hereditary predisposition to retinoblastoma. The term constitutional epimutation describes an epigenetic aberration in normal tissues that predisposes to disease. The data presented by Quiñonez-Silva et al. are interesting, but further analysis is required to demonstrate a constitutional epimutation in this family. Here, we define the criteria and describe the experimental approach necessary to identify an epigenetic aberration as a constitutional epimutation.
  • |*DNA Methylation [MESH]
  • |*Mutation [MESH]
  • |Epigenesis, Genetic [MESH]
  • |Genetic Predisposition to Disease [MESH]


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