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

Ítems similars

• Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
  per: Buskin, Adriana, et al.
  Publicat: (2018)
• Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
  per: Mordes, Daniel, et al.
  Publicat: (2007)
• Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
  per: Xu, Fei, et al.
  Publicat: (2012)
• Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
  per: Wheway, Gabrielle, et al.
  Publicat: (2020)
• A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer
  per: Zheng, Yu, et al.
  Publicat: (2018)