Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

@article{Kennan2002IdentificationOA,
  title={Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.},
  author={Avril Kennan and Aileen Aherne and Arpad Palfi and Marian M. Humphries and Alex Mckee and Alan W. Stitt and David A Simpson and K. Demtroder and Torben Falck Orntoft and Carmen Pallar{\'e}s Ayuso and Paul Francis Kenna and G. Jane Farrar and Pete Humphries},
  journal={Human molecular genetics},
  year={2002},
  volume={11 5},
  pages={
          547-57
        }
}
Comparative analysis of the transcriptional profiles of approximately 6000 genes in the retinas of wild-type mice with those carrying a targeted disruption of the rhodopsin gene was undertaken by microarray analysis. This revealed a series of transcripts, of which some were derived from genes known to map at retinopathy loci, levels of which were reduced or elevated in the retinas of Rho(-/-) mice lacking functional photoreceptors. The human homologue of one of these genes, encoding inosine… CONTINUE READING

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Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

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