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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Henriques, Sara F., Patissier, Cécile, Bourg, Nathalie, Fecchio, Chiara, Sandona, Doriana, Marsolier, Justine, Richard, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5779665/
https://ncbi.nlm.nih.gov/pubmed/29360879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0191274
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