Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

Antzeko izenburuak

• IDENTIFICATION OF THE RP1 AND RP10 (IMPDH1) GENES CAUSING AUTOSOMAL DOMINANT RP
  nork: Daiger, Stephen P., et al.
  Argitaratua: (2003)
• Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene
  nork: KOZMA, PETRA, et al.
  Argitaratua: (2005)
• Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis
  nork: Bowne, Sara J., et al.
  Argitaratua: (2006)
• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  nork: Bowne, Sara J., et al.
  Argitaratua: (2008)
• Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)
  nork: Bennett, Lea D., et al.
  Argitaratua: (2020)