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Molecular Genetics of Inherited Variation in Human Color Vision
Abstract
The hypothesis that red-green "color blindness" is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.
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Cited by
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908
Mechanisms underlying structural variant formation in genomic disorders
Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774
The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
Metadata
- Authors
- Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B., & Hogness, D. S.
- Venue
- Science
- Published
- 1986-04-11
- Volume
- 232
- Issue
- 4747
- Pages
- 203-210
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2085583092
- Cited by
- 781
- References
- 0
- FWCI
- 13.40
- Type
- journal article
- Language
- en
- Open access
- closed
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- Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B., & Hogness, D. S. (1986). Molecular Genetics of Inherited Variation in Human Color Vision. Science. https://doi.org/10.1126/science.3485310
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