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Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease

Cockayne syndrome (CS) is a multisystem disorder with severe neurological symptoms. The majority of CS patients carry mutations in Cockayne syndrome group B (CSB), best known for its role in transcription-coupled nucleotide excision repair. Indeed, because various repair pathways are compromised in...

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Autors principals: Wang, Yuming, Chakravarty, Probir, Ranes, Michael, Kelly, Gavin, Brooks, Philip J., Neilan, Edward, Stewart, Aengus, Schiavo, Giampietro, Svejstrup, Jesper Q.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4210037/
https://ncbi.nlm.nih.gov/pubmed/25249633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1412569111
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