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Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

Desmin is the major intermediate filament (IF) protein of muscle. Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM). The impact of any of these mutations on filament asse...

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Main Authors: Bär, Harald, Mücke, Norbert, Kostareva, Anna, Sjöberg, Gunnar, Aebi, Ueli, Herrmann, Harald
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2005
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1250230/
https://ncbi.nlm.nih.gov/pubmed/16217025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0504568102
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