Concepedia

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Neena B. Haider, Samuel G. Jacobson, Artur V. Cideciyan, Ruth E. Swiderski, Luan M. Streb, Charles Searby, Gretel Beck, Robin R. Hockey, David B. Hanna, Susan W. Gorman,

Nature Genetics · 2000 · 508 citations · 20 references

DOI

Concepts

References

20

Fast and sensitive silver staining of DNA in polyacrylamide gels

Brant J. Bassam, Gustavo Caetano-Anollés, Peter M. Gresshoff · Analytical Biochemistry · 1991 · 2.9K citations

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Identification of a photoreceptor cell-specific nuclear receptor

Mime Kobayashi, Shinichiro Takezawa, Kenji Hara et al. · Proceedings of the National Academy of Sciences · 1999 · 214 citations

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Diagnostic Clinical Findings of a New Syndrome with Night Blindness, Maculopathy, and Enhanced S Cone Sensitivity

Michael F. Marmor, Samuel G. Jacobson, Michael Foerster et al. · American Journal of Ophthalmology · 1990 · 202 citations · Full text

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SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.

Samuel G. Jacobson, Michael F. Marmor, C.M. Kemp et al. · PubMed · 1990 · 147 citations

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Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

Samuel G. Jacobson, Artur V. Cideciyan, Yijun Huang et al. · PubMed · 1998 · 127 citations

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