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Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

  • Author(s): Moore, Anthony
  • Gardner, JC
  • Liew, G
  • Quan, Y-H
  • Ermetal, B
  • Ueyama, H
  • Davidson, AE
  • Schwarz, N
  • Kanuga, N
  • Chana, R
  • Maher, ER
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4285181?pdf=render
No data is associated with this publication.
Abstract

Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped in

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