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

Antzeko izenburuak

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