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A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

Kaylie D JonesAlina RadziwonDavid G BirchIan M MacDonald
Published in: Ophthalmic genetics (2020)
This case is the first report of a SVA insertion in the CHM gene causing choroideremia.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • transcription factor
  • genome wide analysis