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

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          Abstract

          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 mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.

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          Author and article information

          Journal
          Science
          Science (New York, N.Y.)
          American Association for the Advancement of Science (AAAS)
          0036-8075
          0036-8075
          Jun 10 1994
          : 264
          : 5165
          Affiliations
          [1 ] Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
          Article
          10.1126/science.8202715
          8202715
          0458ceec-73a6-4033-a693-3cdf3da91d16
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