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The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine

OBJECTIVE: Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailored to specific mutations, thus molecular diagnostics are p...

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Detalles Bibliográficos
Autores principales: Iskandar, Kristy, Dwianingsih, Ery Kus, Pratiwi, Linda, Kalim, Alvin Santoso, Mardhiah, Hasna, Putranti, Alifiani H., Nurputra, Dian K., Triono, Agung, Herini, Elisabeth S., Malueka, Rusdy G., Gunadi, Lai, Poh San, Sunartini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819651/
https://www.ncbi.nlm.nih.gov/pubmed/31661024
http://dx.doi.org/10.1186/s13104-019-4730-1