The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genoty...

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Detalles Bibliográficos
Autores principales: Martone, J., Briganti, F., Legnini, I., Morlando, M., Picillo, E., Sthandier, O., Politano, L., Bozzoni, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736020/
https://www.ncbi.nlm.nih.gov/pubmed/26796035
http://dx.doi.org/10.1038/ncomms10488

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736020/
https://www.ncbi.nlm.nih.gov/pubmed/26796035
http://dx.doi.org/10.1038/ncomms10488

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