Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Twelve neurological disorders are caused by gene-specific CAG/CTG repeat expansions that are highly unstable upon transmission to offspring. This intergenerational repeat instability is clinically relevant since disease onset, progression and severity are associated with repeat size. Studies of mode...

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Detalhes bibliográficos
Autor principal: Martins, S (author)
Outros Autores: Pearson, CE (author), Coutinho, P (author), Provost, S (author), Amorim, A (author), Dubé, MP (author), Sequeiros, J (author), Rouleau, GA (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
Adult
Child
DNA Repair/genetics
DNA Replication/genetics
Genes, Modifier
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Machado-Joseph Disease/genetics
Microsatellite Instability
Polymorphism, Single Nucleotide
Recombination, Genetic/genetics
Trinucleotide Repeats/genetics
Texto completo:http://hdl.handle.net/10216/114493
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/114493

Texto Completo

http://hdl.handle.net/10216/114493

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