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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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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2015
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| Soggetti: | |
| Accesso online: | 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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