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https://hdl.handle.net/10495/24425| Título : | C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke |
| Autor : | Arboleda Velásquez, Joseph Fitzgerald Lopera Restrepo, Francisco Javier López Alzate, María Elizabeth Frosch, Matthew P. Sepúlveda Falla, Diego Gutiérrez, Juan E. Vargas, S. Álvarez Medina, María de Lourdes Medina, M. Martínez de Arrieta, C. Lebo, R. V. Slaugenhaupt, S. A. Betensky, Rebecca A. Sánchez Villegas, Almudena Arcos Burgos, Oscar Mauricio Rivera, D. Restrepo Medrano, Juan Carlos Kosik, Kenneth S. |
| metadata.dc.subject.*: | Receptor Notch3 Receptor, Notch3 CADASIL Accidente Cerebrovascular Stroke |
| Fecha de publicación : | 2002 |
| Editorial : | American Academy of Neurology Lippincott, Williams & Wilkins |
| Citación : | Arboleda-Velasquez, J. F., Lopera, F., Lopez, E., Frosch, M. P., Sepulveda-Falla, D., Gutierrez, J. E., Vargas, S., Medina, M., Martinez De Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, R. A., Villegas, A., Arcos-Burgos, M., Rivera, D., Restrepo, J. C., & Kosik, K. S. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. [Online]. 2002. 59(2), 277–279. Available in: https://n.neurology.org/content/59/2/277 |
| Resumen : | ABSTRACT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation. |
| metadata.dc.identifier.eissn: | 1526-632X |
| ISSN : | 0028-3878 |
| metadata.dc.identifier.doi: | 10.1212/WNL.59.2.277 |
| Aparece en las colecciones: | Artículos de Revista en Enfermería |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| RestrepoJuan_2002_C455RNotch3Mutation.pdf | Artículo de investigación | 65.1 kB | Adobe PDF | Visualizar/Abrir |
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