Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

Míreanna Comhchosúla

• Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
  le: Bowne, Sara J., et al.
  Foilsithe: (2002)
• Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1
  le: Radojevic, Bojana, et al.
  Foilsithe: (2020)
• Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding
  le: Mortimer, Sarah E., et al.
  Foilsithe: (2005)
• Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis
  le: Bowne, Sara J., et al.
  Foilsithe: (2006)
• Different Characteristics and Nucleotide Binding Properties of Inosine Monophosphate Dehydrogenase (IMPDH) Isoforms
  le: Thomas, Elaine C., et al.
  Foilsithe: (2012)