Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

Eitemau Tebyg

• Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1
  gan: Goldberg, Andrew F. X., et al.
  Cyhoeddwyd: (1996)
• Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
  gan: Kedzierski, Wojciech, et al.
  Cyhoeddwyd: (2001)
• Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
  gan: Wroblewski, J J, et al.
  Cyhoeddwyd: (1994)
• Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants
  gan: Böhm, Sybille, et al.
  Cyhoeddwyd: (2017)
• Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
  gan: Aldred, M A, et al.
  Cyhoeddwyd: (1994)