Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)

Machado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being depend...

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Detalhes bibliográficos
Autor principal: Bettencourt, C. (author)
Outros Autores: Raposo, Mafalda (author), Kazachkova, Nadiya (author), Santos, Cristina (author), Kay, Teresa (author), Vasconcelos, João (author), Maciel, P. (author), Donis, Karina (author), Pereira, Maria Luiza Saraiva (author), Jardim, Laura (author), Sequeiros, Jorge (author), Armas, Jácome Bruges (author), Lima, M. (author)
Formato: article
Idioma:eng
Publicado em: 2012
Assuntos:
Texto completo:http://hdl.handle.net/1822/20476
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/20476