Now showing items 1-1 of 1

    • Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity 

      Higham, Catherine; Hogg, Grant; Braida, Claudia; del Valle Carazo, Gerardo; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Ashizawa, Tetsuo; Wilcox, Alison; Couto, Jillian M.; Morales Montero, Fernando; Cuenca Berger, Patricia; Wilson, Richard H.; Adam, Berit; Wilcox, Dougals E.; Monckton, Darren G. (Human Molecular Genetics, 2012 Vol. 21, No. 16. 3558–3567, 2012-05-30)
      Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG ...