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Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG)(n) expansion in the 3′-untranslated region of the DM1 protein kinase (DMPK) gene. To explain disease pathogenesis, the RNA dominance model proposes that the DM1 mutation produces a gain-of-function at th...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2000
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC302046/ https://ncbi.nlm.nih.gov/pubmed/10970838 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/emboj/19.17.4439 |
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