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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Bibliographic Details
Main Author: Martins, S (author)
Other Authors: Pearson, CE (author), Coutinho, P (author), Provost, S (author), Amorim, A (author), Dubé, MP (author), Sequeiros, J (author), Rouleau, GA (author)
Format: article
Language:eng
Published: 2014
Subjects:
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
Online Access:http://hdl.handle.net/10216/114493
Country:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/114493

Internet

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

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