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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopul...

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Detalles Bibliográficos
Autores principales: Kumar, Shalini H., Athimoolam, Kalpana, Suraj, Manikandan, Das Christu Das, Mary Shoba, Muralidharan, Aparna, Jeyam, Divya, Ashokan, Jaicy, Karthikeyan, Priya, Krishna, Ragav, Khanna-Gupta, Arati, Bremadesam Raman, Lakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304910/
https://www.ncbi.nlm.nih.gov/pubmed/32559196
http://dx.doi.org/10.1371/journal.pone.0232654