Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

Eitemau Tebyg

• Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
  gan: Buskin, Adriana, et al.
  Cyhoeddwyd: (2018)
• Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
  gan: Mordes, Daniel, et al.
  Cyhoeddwyd: (2007)
• Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
  gan: Xu, Fei, et al.
  Cyhoeddwyd: (2012)
• Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
  gan: Wheway, Gabrielle, et al.
  Cyhoeddwyd: (2020)
• Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
  gan: Wilkie, Susan E., et al.
  Cyhoeddwyd: (2008)