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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...

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Detalles Bibliográficos
Autores principales: Henriques, Sara F., Patissier, Cécile, Bourg, Nathalie, Fecchio, Chiara, Sandona, Doriana, Marsolier, Justine, Richard, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
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