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.
Rok vydání:	2002
Předmět:	Adult Male Heterozygote medicine.medical_specialty Pediatrics Receptor Notch3 DNA Mutational Analysis CADASIL Colombia Arginine Accidente Cerebrovascular medicine Humans Cysteine Age of Onset Receptor Notch3 Stroke Aged Early onset business.industry Middle Aged CADASIL Syndrome medicine.disease Surgery Dementia Multi-Infarct Mutation Mutation (genetic algorithm) Female Neurology (clinical) Age of onset business
Zdroj:	Repositorio UdeA Universidad de Antioquia instacron:Universidad de Antioquia
ISSN:	1526-632X 0028-3878
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35b1e8c55efc83ffbee9384fed5c2fe https://doi.org/10.1212/wnl.59.2.277 Zobrazit plný text záznamu