A parent-of-origin effect impacts the phenotype in low penetrance retinoblastoma families segregating the c.1981c>t/p.arg661trp mutation of rb1

HIGHLIGHTS

• who: Philippine Eloy and collaborators from the l'Institut, France, Institut, PSL Research University, France, CNRS UMR , have published the research: A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1, in the Journal: (JOURNAL) of February/29,/2016
• what: The authors propose that the maternally inherited c.1981C>T/p.Arg661Trp allele retains sufficient tumor suppressor activity to prevent retinoblastoma development. The authors focused on a differentially methylated CpG island showing parent-oforigin-specific DNA methylation at the RB1 gene and . . .
  

   

  

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