KEGG   VARIANT: 1756v1
Entry
1756v1                      Variant                                

Name
DMD mutation
Gene
DMD  dystrophin [KO:K10366]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations amenable to exon 51 skipping
Variation
mutations amenable to exon 53 skipping
Variation
mutations amenable to exon 45 skipping
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
Drug target
Casimersen: D11988
Eteplirsen: D09900<US>
Golodirsen: D11707<US>
Viltolarsen: D11528<JP/US>
Reference
  Authors
Lim KR, Maruyama R, Yokota T
  Title
Eteplirsen in the treatment of Duchenne muscular dystrophy.
  Journal
Drug Des Devel Ther 11:533-545 (2017)
DOI:10.2147/DDDT.S97635
Reference
  Authors
Rodrigues M, Yokota T
  Title
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
  Journal
Methods Mol Biol 1828:31-55 (2018)
DOI:10.1007/978-1-4939-8651-4_2
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