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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat ExpansionCampuzano, Victoria ; Montermini, Laura ; Moltò, Maria Dolores ; Pianese, Luigi ; Cossée, Mireille ; Cavalcanti, Francesca ; Monros, Eugenia ; Rodius, François ; Duclos, Franck ; Monticelli, Antonella ; Zara, Federico ; Cañizares, Joaquin ; Koutnikova, Hana ; Bidichandani, Sanjay I. ; Gellera, Cinzia ; Brice, Alexis ; Trouillas, Paul ; De Michele, Giuseppe ; Filla, Alessandro ; De Frutos, Rosa ; Palau, Francisco ; Patel, Pragna I. ; Di Donato, Stefano ; Mandel, Jean-Louis ; Cocozza, Sergio ; Koenig, Michel ; Pandolfo, MassimoScience (American Association for the Advancement of Science), 1996-03, Vol.271 (5254), p.1423-1427 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |