Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered a key modifier of disease severity. Several e...

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Bibliografische gegevens
Hoofdauteurs: Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2013
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607557/
https://ncbi.nlm.nih.gov/pubmed/23536893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059916
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