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Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions()

Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and...

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Detalhes bibliográficos
Main Authors: Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3898077/
https://ncbi.nlm.nih.gov/pubmed/24041967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015
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