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...

Descripción completa

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:
Research Note
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

Ejemplares similares

Ejemplares similares