Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

@article{Kajiwara1994DigenicRP,
  title={Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.},
  author={Kazuto Kajiwara and E L Berson and T. P. Dryja},
  journal={Science},
  year={1994},
  volume={264 5165},
  pages={1604-8}
}
In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked… CONTINUE READING
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