Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis

Eitemau Tebyg

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  gan: Bowne, Sara J., et al.
  Cyhoeddwyd: (2008)
• Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene
  gan: KOZMA, PETRA, et al.
  Cyhoeddwyd: (2005)
• Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
  gan: Bowne, Sara J., et al.
  Cyhoeddwyd: (2002)
• MUTATIONS IN KNOWN GENES ACCOUNT FOR 58% OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (adRP)
  gan: Daiger, Stephen P., et al.
  Cyhoeddwyd: (2008)
• Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families
  gan: Sullivan, Lori S., et al.
  Cyhoeddwyd: (2006)