MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

BACKGROUND: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. METHODS: We used the combination of multiplex ligation‐dependent probe amplification (M...

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Detalles Bibliográficos
Autores principales: Guevara‐Fujita, María Luisa, Huaman‐Dianderas, Francia, Obispo, Daisy, Sánchez, Rodrigo, Barrenechea, Victor, Rojas‐Málaga, Diana, Estrada‐Cuzcano, Alejandro, Trubnykova, Milana, Cornejo‐Olivas, Mario, Marca, Victoria, Gallardo, Bertha, Dueñas‐Roque, Milagros, Protzel, Ana, Castañeda, Carlos, Abarca, Hugo, Celis, Luis, La Serna‐Infantes, Jorge, Fujita, Ricardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457708/
https://www.ncbi.nlm.nih.gov/pubmed/34327855
http://dx.doi.org/10.1002/mgg3.1759

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457708/
https://www.ncbi.nlm.nih.gov/pubmed/34327855
http://dx.doi.org/10.1002/mgg3.1759

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