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A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a...

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Autors principals: Helliwell, T R, Ellis, J M, Mountford, R C, Appleton, R E, Morris, G E
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684302/
https://ncbi.nlm.nih.gov/pubmed/1539591
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