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Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

Among 85 patients with Duchenne and Becker muscular dystrophy, 29 were found to have mutations which disrupted the open reading frame for dystrophin. Thus any dystrophin detected in this group of patients should consist of the severely truncated polypeptides that represent prematurely terminated tra...

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Detalles Bibliográficos
Publicado en:J Med Genet
Principais autores: Nicholson, L V, Bushby, K M, Johnson, M A, den Dunnen, J T, Ginjaar, I B, van Ommen, G J
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1992
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016208/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1479604/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.12.892
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