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

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