A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

@article{Veneziano2014ASH,
  title={A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation},
  author={Liana Veneziano and Elide Mantuano and Claudio Catalli and Cinzia Gellera and Alexandra Durr and Silvia Romano and Maria Spadaro and Marina Frontali and Andrea Novelletto},
  journal={Journal of Human Genetics},
  year={2014},
  volume={59},
  pages={153-157}
}
To clarify the population history of dentatorubropallidoluysian atrophy (DRPLA) in Italy and to date back the introduction of the mutation, we reconstructed extended haplotypes flanking the CAG repeat in 10 patients of Italian ancestry, analyzing their similarity/dissimilarity as a function of distance from the CAG repeat. Our aim was to compare the… CONTINUE READING