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Your search keyword '"Arboleda-Velasquez JF"' showing total 2 results
Start Over Author "Arboleda-Velasquez JF" Publisher lippincott williams & wilkins
2 results on '"Arboleda-Velasquez JF"'

2. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.

Author

Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, and Kosik KS

Subjects
Adult, Age of Onset, Aged, Arginine metabolism, Colombia, Cysteine metabolism, DNA Mutational Analysis, Female, Heterozygote, Humans, Male, Middle Aged, Dementia, Multi-Infarct genetics, Mutation, Stroke genetics
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.

Published
2002
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