The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Open accessAbstract
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.
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Citations
Cites
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
Cited by
Olsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L., & Dryja, T. P. (1992) · Neuron · doi:10.1016/0896-6273(92)90236-7 · Cited by 455
Wells, J., Wroblewski, J., Keen, J., Inglehearn, C., Jubb, C., Eckstein, A., Jay, M., Arden, G., Bhattacharya, S., Fitzke, F., et al. (1993) · Nature Genetics · doi:10.1038/ng0393-213 · Cited by 438
Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992) · Nature Genetics · doi:10.1038/ng0692-209 · Cited by 422
McBee, J. K., Palczewski, K., Baehr, W., & Pepperberg, D. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00002-7 · Cited by 366
Tan, E., Ding, X.-Q., Saadi, A., Agarwal, N., Naash, M. I., & Al-Ubaidi, M. R. (2004) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.03-1114 · Cited by 345
Metadata
- Authors
- Sung, C. H., Davenport, C. M., Hennessey, J. C., Maumenee, I. H., Jacobson, S. G., Heckenlively, J. R., Nowakowski, R., Fishman, G., Gouras, P., & Nathans, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1991-08
- Volume
- 88
- Issue
- 15
- Pages
- 6481-6485
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2064319275
- Cited by
- 461
- References
- 1
- FWCI
- 13.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Sung, C. H., Davenport, C. M., Hennessey, J. C., Maumenee, I. H., Jacobson, S. G., Heckenlively, J. R., Nowakowski, R., Fishman, G., Gouras, P., & Nathans, J. (1991). Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.88.15.6481
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