Login / Signup

Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD.

Rasha El SherifYoshihiko SaitoTomonari AwayaSatoru NoguchiIchizo Nishino
Published in: Neurology. Genetics (2024)
Our case provides a valuable example of the mechanism of alternative splicing switches for polyadenylation selection.
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • genome wide identification
  • muscular dystrophy
  • genome wide analysis