The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q
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Cites
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The Gap Junction Communication Channel
Kumar, N. M., & Gilula, N. B. (1996) · Cell · doi:10.1016/s0092-8674(00)81282-9 · Cited by 1,917
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., & Leigh, I. M. (1997) · Nature · doi:10.1038/387080a0 · Cited by 1,470
Online Mendelian Inheritance In Man (OMIM)
Hamosh, A., Scott, A. F., Amberger, J., Valle, D., & McKusick, V. A. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<57::aid-humu12>3.0.co;2-g · Cited by 1,156
Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. O., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., & Fischbeck, K. H. (1993) · Science · doi:10.1126/science.8266101 · Cited by 1,066
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Cited by
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Beyond the gap: functions of unpaired connexon channels
Goodenough, D. A., & Paul, D. L. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1072 · Cited by 729
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595
Somatic Mutations in the Connexin 40 Gene ( GJA5 ) in Atrial Fibrillation
Gollob, M. H., Jones, D. L., Krahn, A. D., Danis, L., Gong, X.-Q., Shao, Q., Liu, X., Veinot, J. P., Tang, A. S. L., Stewart, A. F. R., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052800 · Cited by 543
Targeted Ablation of Connexin50 in Mice Results in Microphthalmia and Zonular Pulverulent Cataracts
White, T. W., Goodenough, D. A., & Paul, D. L. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.143.3.815 · Cited by 358
Metadata
- Authors
- Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., & Bhattacharya, S.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1998-03
- Volume
- 62
- Issue
- 3
- Pages
- 526-532
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2004617457
- Cited by
- 381
- References
- 21
- FWCI
- 10.24
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q. https://app.cochat.ai/papers/10.1086/301762
- The paper
- Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., & Bhattacharya, S. (1998). A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q. The American Journal of Human Genetics. https://doi.org/10.1086/301762
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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.