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RIMS1

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Retinal Dystrophy Gene Atlas

Abstract

RIMS1 encodes Rab-3 interacting molecule, which is a photoreceptor synaptic protein involved in regulating vesicle exocytosis. Mutations in RIMS1 are associated with autosomal dominant cone-rod dystrophy (CORD7) [1, 2].

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References

  1. Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, et al. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. Br J Ophthalmol. 2008;92(1):95–102.

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  2. Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol. 2005;89(2):198–206.

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  3. Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, et al. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics. 2003;81(3):304–14.

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Zahid, S. et al. (2018). RIMS1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_68

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_68

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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