Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

BACKGROUND: Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multip...

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Detalles Bibliográficos
Autores principales: Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, Gonzalez-Quereda, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313949/
https://www.ncbi.nlm.nih.gov/pubmed/36535754
http://dx.doi.org/10.1136/jmg-2022-108828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313949/
https://www.ncbi.nlm.nih.gov/pubmed/36535754
http://dx.doi.org/10.1136/jmg-2022-108828

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