A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Míreanna Comhchosúla

• A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
  le: Bowne, Sara J, et al.
  Foilsithe: (2011)
• Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)
  le: Daiger, Stephen P., et al.
  Foilsithe: (2014)
• Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
  le: Kiang, Anna-Sophia, et al.
  Foilsithe: (2020)
• Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy
  le: Chadderton, Naomi, et al.
  Foilsithe: (2009)
• Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
  le: Kenna, Paul F, et al.
  Foilsithe: (2020)