Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

The prevailing pathomechanistic paradigm for myotonic dystrophy (DM) is that aberrant expression of embryonic/fetal mRNA/protein isoforms accounts for most aspects of the pleiotropic phenotype. To identify aberrant isoforms in skeletal muscle of DM1 and DM2 patients, we performed exon-array profilin...

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Hlavní autoři: Bachinski, Linda L., Baggerly, Keith A., Neubauer, Valerie L., Nixon, Tamara J., Raheem, Olayinka, Sirito, Mario, Unruh, Anna K., Zhang, Jiexin, Nagarajan, Lalitha, Timchenko, Lubov T., Bassez, Guillaume, Eymard, Bruno, Gamez, Josep, Ashizawa, Tetsuo, Mendell, Jerry R., Udd, Bjarne, Krahe, Ralf
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943873/
https://ncbi.nlm.nih.gov/pubmed/24332166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.11.001
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