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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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Udgivet i:EMBO J
Principais autores: Miller, Jill W., Urbinati, Carl R., Teng-umnuay, Patana, Stenberg, Myrna G., Byrne, Barry J., Thornton, Charles A., Swanson, Maurice S.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2000
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Articles
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC302046/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10970838/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/emboj/19.17.4439
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