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Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-β aggregates
A deficiency of functional dystrophin protein in muscle cells causes muscular dystrophy (MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal actin binding domain (N-ABD or ABD1). We examined the effect of four disease-causing mutations—L54R, A168D, A171P, and Y2...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2930578/ https://ncbi.nlm.nih.gov/pubmed/20696926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1008818107 |
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