The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
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Citations
Cites
Basic local alignment search tool
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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M. A., Pavan, W. J., Krizman, D. B., et al. (1997) · Science · doi:10.1126/science.277.5323.228 · Cited by 1,293
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Cited by
Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.-C., Niaudet, P., & Antignac, C. (2000) · Nature Genetics · doi:10.1038/74166 · Cited by 1,444
Self-citationHamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature · doi:10.1038/35022604 · Cited by 959
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
Tanaka, Y., Guhde, G., Suter, A., Eskelinen, E.-L., Hartmann, D., Lüllmann-Rauch, R., Janssen, P. M. L., Blanz, J., von Figura, K., & Saftig, P. (2000) · Nature · doi:10.1038/35022595 · Cited by 925
Amino acid transporters revisited: New views in health and disease
Kandasamy, P., Gyimesi, G., Kanai, Y., & Hediger, M. A. (2018) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2018.05.003 · Cited by 484
Metadata
- Authors
- Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S. A., Callen, D. F., Gribouval, O., Broyer, M., Bates, G. P., Hoff, W. V., & Antignac, C.
- Venue
- Nature Genetics
- Published
- 1998-04
- Volume
- 18
- Issue
- 4
- Pages
- 319-324
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2029870086
- Cited by
- 639
- References
- 22
- FWCI
- 12.90
- Type
- journal article
- Language
- en
- Open access
- closed
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. https://app.cochat.ai/papers/10.1038/ng0498-319
- The paper
- Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S. A., Callen, D. F., Gribouval, O., Broyer, M., Bates, G. P., Hoff, W. V., & Antignac, C. (1998). A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genetics. https://doi.org/10.1038/ng0498-319
Data sources
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.
