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

Autor: Elide Mantuano, Liana Veneziano, Marina Frontali, Claudio Catalli, Alexandra Durr, Maria Spadaro, Cinzia Gellera, Silvia Romano, Andrea Novelletto

Publikováno v: Journal of human genetics
59 (2014): 153–157. doi:10.1038/jhg.2013.137
info:cnr-pdr/source/autori:Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea/titolo:A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation/doi:10.1038%2Fjhg.2013.137/rivista:Journal of human genetics (Print)/anno:2014/pagina_da:153/pagina_a:157/intervallo_pagine:153–157/volume:59

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 th

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http://hdl.handle.net/11573/559219