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

Abstract 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...

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Detalhes bibliográficos
Autor principal: Castilhos,Raphael Machado de (author)
Outros Autores: Santos,José Augusto dos (author), Augustin,Marina Coutinho (author), Pedroso,José Luiz (author), Barsottini,Orlando (author), Saba,Roberta (author), Ferraz,Henrique Ballalai (author), Godeiro Junior,Clécio (author), Vargas,Fernando Regla (author), Salarini,Diego Zanotti (author), Furtado,Gabriel Vasata (author), Polese-Bonatto,Marcia (author), Rodrigues,Luiza Paulsen (author), Sena,Lucas Schenatto (author), Saraiva-Pereira,Maria Luiza (author), Jardim,Laura Bannach (author)
Formato: article
Idioma:eng
Publicado em: 2019
Assuntos:
CAG expansion
Huntington’s disease
intergenerational instability
minimal prevalence
Texto completo:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329
País:Brasil
Oai:oai:scielo:S1415-47572019000300329

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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329

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