Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Liknande verk

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  av: Bowne, Sara J., et al.
  Publicerad: (2008)
• Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis
  av: Bowne, Sara J., et al.
  Publicerad: (2006)
• Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene
  av: KOZMA, PETRA, et al.
  Publicerad: (2005)
• Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
  av: Sullivan, Lori S., et al.
  Publicerad: (2006)
• MUTATIONS IN KNOWN GENES ACCOUNT FOR 58% OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (adRP)
  av: Daiger, Stephen P., et al.
  Publicerad: (2008)