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Disease-proportional proteasomal degradation of missense dystrophins

The 427-kDa protein dystrophin is expressed in striated muscle where it physically links the interior of muscle fibers to the extracellular matrix. A range of mutations in the DMD gene encoding dystrophin lead to a severe muscular dystrophy known as Duchenne (DMD) or a typically milder form known as...

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Publicado en:Proc Natl Acad Sci U S A
Autores principales: Talsness, Dana M., Belanto, Joseph J., Ervasti, James M.
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4603481/
https://ncbi.nlm.nih.gov/pubmed/26392559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1508755112
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