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    • Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions 

      Castilhos, Raphael Machado de; Santos, José Augusto dos; Augustin, Marina Coutinho; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Saba, Roberta Arb; Ferraz, Henrique Ballalai; Godeiro Júnior, Clécio de Oliveira; Vargas, Fernando Regla; Salarini, Diego Zanotti; Furtado, Gabriel Vasata; Bonatto, Márcia Polese; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto de; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica (2019) [Journal article]
      Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) ...