Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy

Missense mutations in the dystrophin protein can cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) through an undefined pathomechanism. In vitro studies suggest that missense mutations in the N-terminal actin-binding domain (ABD1) cause protein instability, and cultured myob...

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Publicado en:Hum Mol Genet
Autores principales: McCourt, Jackie L, Talsness, Dana M, Lindsay, Angus, Arpke, Robert W, Chatterton, Paul D, Nelson, D’anna M, Chamberlain, Christopher M, Olthoff, John T, Belanto, Joseph J, McCourt, Preston M, Kyba, Michael, Lowe, Dawn A, Ervasti, James M
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2018
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886145/
https://ncbi.nlm.nih.gov/pubmed/29194514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx414
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