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
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
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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