Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society
- DOI
- 10.1016/j.gim.2025.101365
- Published
- 2025-05
- Container
- Genetics in Medicine
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.gim.2025.101365,
title = {Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society},
author = {María José Ariza and Inmaculada Coca-Prieto and José Rioja and Ovidio Muñiz-Grijalvo and Daniel Zambón-Rados and Agustín Blanco-Echevarría and Teresa Arrobas-Velilla and Javier Delgado-Lista and David León-Jiménez and Marta Casañas-Martínez and Luis Antonio Álvarez-Sala and Liliana Gutiérrez-Carrasquilla and Justo Sánchez-Gil and Mónica Domènech and Andrés González-Jiménez and María José Benítez-Toledo and Javier Espíldora-Hernández and Emilio Ortega-Martínez de Victoria and Miguel Ángel Sánchez-Chaparro and Pedro Valdivielso},
year = {2025},
journal = {Genetics in Medicine},
doi = {10.1016/j.gim.2025.101365},
url = {https://doi.org/10.1016/j.gim.2025.101365}
}RIS
TY - JOUR TI - Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society AU - María José Ariza AU - Inmaculada Coca-Prieto AU - José Rioja AU - Ovidio Muñiz-Grijalvo AU - Daniel Zambón-Rados AU - Agustín Blanco-Echevarría AU - Teresa Arrobas-Velilla AU - Javier Delgado-Lista AU - David León-Jiménez AU - Marta Casañas-Martínez AU - Luis Antonio Álvarez-Sala AU - Liliana Gutiérrez-Carrasquilla AU - Justo Sánchez-Gil AU - Mónica Domènech AU - Andrés González-Jiménez AU - María José Benítez-Toledo AU - Javier Espíldora-Hernández AU - Emilio Ortega-Martínez de Victoria AU - Miguel Ángel Sánchez-Chaparro AU - Pedro Valdivielso PY - 2025 JO - Genetics in Medicine DO - 10.1016/j.gim.2025.101365 UR - https://doi.org/10.1016/j.gim.2025.101365 ER -
APA
Ariza, M. J., Coca-Prieto, I., Rioja, J., Muñiz-Grijalvo, O., Zambón-Rados, D., Blanco-Echevarría, A., Arrobas-Velilla, T., Delgado-Lista, J., León-Jiménez, D., Casañas-Martínez, M., Álvarez-Sala, L. A., Gutiérrez-Carrasquilla, L., Sánchez-Gil, J., Domènech, M., González-Jiménez, A., Benítez-Toledo, M. J., Espíldora-Hernández, J., Victoria, E. O. D., Sánchez-Chaparro, M. Á., & Valdivielso, P. (2025). Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. Genetics in Medicine. https://doi.org/10.1016/j.gim.2025.101365
Source records
- crossref · retrieved 2026-09-27T15:09:23.337Z