The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
Abstract
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR , a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.
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Citations
Cites
Prevalence of age-related maculopathy
Klein, R., Klein, B. E. K., & Linton, K. L. P. (1992) · Ophthalmology · doi:10.1016/s0161-6420(92)31871-8 · Cited by 1,845
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435
Self-citationWeber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U. (1994) · Nature Genetics · doi:10.1038/ng1294-352 · Cited by 656
A prospective study of cigarette smoking and age-related macular degeneration in women
Seddon, J. M. (1996) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1996.03540140029022 · Cited by 435
Self-citationFamilial aggregation of age-related maculopathy
SEDDON, J. M., AJANI, U. A., & MITCHELL, B. D. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71036-0 · Cited by 350
Self-citationStargardt's ABCR is localized to the disc membrane of retinal rod outer segments
Sun, H., & Nathans, J. (1997) · Nature Genetics · doi:10.1038/ng0997-15 · Cited by 251
Cited by
The Retinal Pigment Epithelium in Visual Function
Strauss, O. (2005) · Physiological Reviews · doi:10.1152/physrev.00021.2004 · Cited by 2,828
Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501536102 · Cited by 1,961
Self-citationMutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3448 · Cited by 1,544
Self-citationThe AMD Genetics Clinical Study Group, Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1750 · Cited by 1,075
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Metadata
- Authors
- Allikmets, R., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A., Zabriskie, N. A., Li, Y., Hutchinson, A., Dean, M., Lupski, J. R., & Leppert, M.
- Venue
- Science
- Published
- 1997-09-19
- Volume
- 277
- Issue
- 5333
- Pages
- 1805-1807
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2129572698
- Cited by
- 880
- References
- 6
- FWCI
- 16.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- Allikmets, R., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A., Zabriskie, N. A., Li, Y., Hutchinson, A., Dean, M., Lupski, J. R., & Leppert, M. (1997). Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration. Science. https://doi.org/10.1126/science.277.5333.1805
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
