The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
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Citations
Cites
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A., & Lander, E. (1992) · Nature Genetics · doi:10.1038/ng1192-204 · Cited by 558
Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics · doi:10.1038/10357 · Cited by 285
Cited by
The cornified envelope: a model of cell death in the skin
Candi, E., Schmidt, R., & Melino, G. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1619 · Cited by 1,776
Regulation of Lipolysis in Adipocytes
Duncan, R. E., Ahmadian, M., Jaworski, K., Sarkadi-Nagy, E., & Sul, H. S. (2007) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.27.061406.093734 · Cited by 1,021
Brasaemle, D. L. (2007) · Journal of Lipid Research · doi:10.1194/jlr.r700014-jlr200 · Cited by 992
Lipolysis – A highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores
Lass, A., Zimmermann, R., Oberer, M., & Zechner, R. (2011) · Progress in Lipid Research · doi:10.1016/j.plipres.2010.10.004 · Cited by 640
Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores.
Zechner, R., Kienesberger, P. C., Haemmerle, G., Zimmermann, R., & Lass, A. (2009) · Journal of Lipid Research · doi:10.1194/jlr.r800031-jlr200 · Cited by 576
Metadata
- Authors
- Lefèvre, C., Jobard, F., Caux, F., Bouadjar, B., Karaduman, A., Heilig, R., Lakhdar, H., Wollenberg, A., Verret, J.-L., Weissenbach, J., Özgüc, M., Lathrop, M., Prud'homme, J.-F., & Fischer, J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-11
- Volume
- 69
- Issue
- 5
- Pages
- 1002-1012
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2073532048
- Cited by
- 468
- References
- 2
- FWCI
- 5.35
- Type
- journal article
- Language
- en
- Open access
- bronze
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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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- This page
- CoChat. (2026). Citation check: Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome. https://app.cochat.ai/papers/10.1086/324121
- The paper
- Lefèvre, C., Jobard, F., Caux, F., Bouadjar, B., Karaduman, A., Heilig, R., Lakhdar, H., Wollenberg, A., Verret, J.-L., Weissenbach, J., Özgüc, M., Lathrop, M., Prud'homme, J.-F., & Fischer, J. (2001). Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome. The American Journal of Human Genetics. https://doi.org/10.1086/324121
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.
