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The transcription coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the Fragile X premutation

The Fragile X-related disorders (FXDs) are members of the group of diseases known as the Repeat Expansion Diseases. The FXDs result from expansion of an unstable CGG/CCG repeat tract in the 5’ UTR of the FMR1 gene. Contractions are also seen, albeit at lower frequency. We have previously shown that...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Zhao, Xiao-Nan, Usdin, Karen
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4382389/
https://ncbi.nlm.nih.gov/pubmed/25726753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22777
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