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Different outcome of sarcoglycan missense mutation between human and mouse
Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans). Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex that protects sarcolemma aga...
Autores principales: | Henriques, Sara F., Patissier, Cécile, Bourg, Nathalie, Fecchio, Chiara, Sandona, Doriana, Marsolier, Justine, Richard, Isabelle |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779665/ https://www.ncbi.nlm.nih.gov/pubmed/29360879 http://dx.doi.org/10.1371/journal.pone.0191274 |
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