The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model. First, because dystrophin absence causes Duchenne muscular dystrophy (DM...

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Detalles Bibliográficos
Autores principales: Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437896/
https://www.ncbi.nlm.nih.gov/pubmed/32813700
http://dx.doi.org/10.1371/journal.pone.0237803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437896/
https://www.ncbi.nlm.nih.gov/pubmed/32813700
http://dx.doi.org/10.1371/journal.pone.0237803

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