Article
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
Neurology - 23 Jul 2002
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
Abstract excerpt
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...
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