C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
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C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. / Arboleda-Velasquez, J F; Lopera, F; Lopez, E; Frosch, M P; Sepulveda-Falla, Diego; 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.
In: NEUROLOGY, Vol. 59, No. 2, 2, 2002, p. 277-279.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
AU - Arboleda-Velasquez, J F
AU - Lopera, F
AU - Lopez, E
AU - Frosch, M P
AU - Sepulveda-Falla, Diego
AU - Gutierrez, J E
AU - Vargas, S
AU - Medina, M
AU - Martinez De Arrieta, C
AU - Lebo, R V
AU - Slaugenhaupt, S A
AU - Betensky, R A
AU - Villegas, A
AU - Arcos-Burgos, M
AU - Rivera, D
AU - Restrepo, J C
AU - Kosik, K S
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 59
SP - 277
EP - 279
JO - NEUROLOGY
JF - NEUROLOGY
SN - 0028-3878
IS - 2
M1 - 2
ER -