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A de novo nonsense variant in the DMD gene associated with X-linked dystrophin-deficient muscular dystrophy in a cat.

Nozomu YokoyamaYuki MatsumotoTakahisa YamaguchiKazuki OkadaRyohei KinoshitaGenya ShimboHisashi UkawaRyuga IshiiKensuke NakamuraJumpei YamazakiMitsuyoshi Takiguchi
Published in: Journal of veterinary internal medicine (2024)
We identified a de novo variant in the affected cat and next-generation sequencing-based genotyping of the whole DMD gene was determined to be necessary for affected cats because the parents of the affected cat did not have the risk variant.
Keyphrases
  • muscular dystrophy
  • duchenne muscular dystrophy
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • high throughput
  • gene expression
  • genome wide analysis
  • transcription factor
  • circulating tumor