Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genet...

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Detalles Bibliográficos
Autores principales: Gonçalves, Ana, Oliveira, Jorge, Coelho, Teresa, Taipa, Ricardo, Melo-Pires, Manuel, Sousa, Mário, Santos, Rosário
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664103/
https://www.ncbi.nlm.nih.gov/pubmed/28972564
http://dx.doi.org/10.3390/genes8100253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664103/
https://www.ncbi.nlm.nih.gov/pubmed/28972564
http://dx.doi.org/10.3390/genes8100253

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