Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

Gelijkaardige items

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  door: Bowne, Sara J., et al.
  Gepubliceerd in: (2008)
• Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
  door: Bowne, Sara J., et al.
  Gepubliceerd in: (2002)
• MUTATIONS IN KNOWN GENES ACCOUNT FOR 58% OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (adRP)
  door: Daiger, Stephen P., et al.
  Gepubliceerd in: (2008)
• Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7
  door: Wen, Yuquan, et al.
  Gepubliceerd in: (2011)
• Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa
  door: Kiser, Kelly, et al.
  Gepubliceerd in: (2018)