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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...
Autores principales: | Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077/ https://www.ncbi.nlm.nih.gov/pubmed/24041967 http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015 |
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