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

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) state, Brazil, and on intergenerational instability of the (CAG)n in HD famil...

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Detalhes bibliográficos
Principais autores: Godeiro Junior, Clécio de Oliveira, Castilhos, Raphael Machado de, Santos, José Augusto dos, Augustin, Marina Coutinho Augustin, Pedroso, José Luiz, Barsottini, Orlando, Saba, Roberta, Ferraz, Henrique Ballalai, Vargas, Fernando Regla, Salarini, Diego Zanotti, Furtado, Gabriel Vasata, Polese-Bonatto, Marcia, Rodrigues, Luiza Paulsen, Sena, Lucas Schenatto, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Outros Autores: 0000-0002-4312-1633
Formato: article
Idioma:English
Publicado em: SciELO
Assuntos:
CAG expansion
huntington’s disease
intergenerational instability
minimal prevalence
Endereço do item:https://repositorio.ufrn.br/handle/123456789/52926
https://doi.org/10.1590/1678-4685-GMB-2018-0032
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https://repositorio.ufrn.br/handle/123456789/52926
https://doi.org/10.1590/1678-4685-GMB-2018-0032

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