The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
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Citations
Cites
The Metabolic Basis of Inherited Disease.
(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-3-503_7 · Cited by 7,786
The Metabolic Basis of Inherited Disease
(1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-112-5-389_2 · Cited by 3,983
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
Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G., & Travis, G. H. (1999) · Cell · doi:10.1016/s0092-8674(00)80602-9 · Cited by 881 · cited 4×
“…functional effects that mutations can have on the presumed N-retinylidene-phosphatidylethanolamine flippase activity of ABCA4 (Sun et al. 1999; Weng et al. 1999) and on ABCA4-associated pathology, it allows us to evaluate the severity of novel mutations and of combinations thereof and to test…”
BackgroundInfluentialMutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
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., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 880
Identification of the gene responsible for Best macular dystrophy
Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., et al. (1998) · Nature Genetics · doi:10.1038/915 · Cited by 689
Apoptosis: Final common pathway of photoreceptor death in rd, rds, and mutant mice
Chang, G.-Q., Hao, Y., & Wong, F. (1993) · Neuron · doi:10.1016/0896-6273(93)90072-y · Cited by 648
Cremers, F. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.355 · Cited by 548
Self-citationRetinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
Martínez-Mir, A., Paloma, E., Allikmets, R., Ayuso, C., Río, T. D., Dean, M., Vilageliu, L., Gonzàlez-Duarte, R., & Balcells, S. (1998) · Nature Genetics · doi:10.1038/ng0198-11 · Cited by 402
Sun, H., Molday, R. S., & Nathans, J. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.12.8269 · Cited by 353
Cited by
RPE lipofuscin and its role in retinal pathobiology
Sparrow, J. R., & Boulton, M. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.01.007 · Cited by 644
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Wright, A. F., Chakarova, C. F., Abd El-Aziz, M. M., & Bhattacharya, S. S. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2717 · Cited by 631
Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents
Travis, G. H., Golczak, M., Moise, A. R., & Palczewski, K. (2007) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.47.120505.105225 · Cited by 419
Cremers, F. P. M., Lee, W., Collin, R. W. J., & Allikmets, R. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100861 · Cited by 315
Self-citationAllocca, M., Doria, M., Petrillo, M., Colella, P., Garcia-Hoyos, M., Gibbs, D., Kim, S. R., Maguire, A., Rex, T. S., Di Vicino, U., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34316 · Cited by 292
Metadata
- Authors
- Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., & Cremers, F. P. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-10
- Volume
- 67
- Issue
- 4
- Pages
- 960-966
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1964753793
- Cited by
- 330
- References
- 29
- FWCI
- 3.94
- Type
- journal article
- Language
- en
- Open access
- bronze
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- This page
- CoChat. (2026). Citation check: Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy. https://app.cochat.ai/papers/10.1086/303079
- The paper
- Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., & Cremers, F. P. M. (2000). Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy. The American Journal of Human Genetics. https://doi.org/10.1086/303079
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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.
