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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
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Citations
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De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., Le Merrer, M., et al. (2003) · Science · doi:10.1126/science.1084125 · Cited by 1,346
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Nuclear lamins and laminopathies
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
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Bakay, M., Wang, Z., Melcon, G., Schiltz, L., Xuan, J., Zhao, P., Sartorelli, V., Seo, J., Pegoraro, E., Angelini, C., et al. (2006) · Brain · doi:10.1093/brain/awl023 · Cited by 331
Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases
Kudlow, B. A., Kennedy, B. K., & Monnat, R. J. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2161 · Cited by 304
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Pekovic, V., & Hutchison, C. J. (2008) · Journal of Anatomy · doi:10.1111/j.1469-7580.2008.00928.x · Cited by 75
Inherited lipodystrophies and hypertriglyceridemia.
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A-type nuclear lamins, progerias and other degenerative disorders
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Metadata
- Authors
- Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D’Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., & Bonne, G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-08
- Volume
- 71
- Issue
- 2
- Pages
- 426-431
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2006846732
- Cited by
- 553
- References
- 0
- FWCI
- 13.39
- Type
- journal article
- Language
- en
- Open access
- bronze
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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.