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

Standard

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, Jahrgang 59, Nr. 2, 2, 2002, S. 277-279.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

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 & Kosik, KS 2002, 'C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.', NEUROLOGY, Jg. 59, Nr. 2, 2, S. 277-279. <http://www.ncbi.nlm.nih.gov/pubmed/12136071?dopt=Citation>

APA

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. (2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. NEUROLOGY, 59(2), 277-279. [2]. http://www.ncbi.nlm.nih.gov/pubmed/12136071?dopt=Citation

Vancouver

Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE et al. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. NEUROLOGY. 2002;59(2):277-279. 2.

Bibtex

@article{29312c34f24649fb9ad6a909738fa3a9,
title = "C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.",
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.",
author = "Arboleda-Velasquez, {J F} and F Lopera and E Lopez and Frosch, {M P} and Diego Sepulveda-Falla and Gutierrez, {J E} and S Vargas and M Medina and {Martinez De Arrieta}, C and Lebo, {R V} and Slaugenhaupt, {S A} and Betensky, {R A} and A Villegas and M Arcos-Burgos and D Rivera and Restrepo, {J C} and Kosik, {K S}",
year = "2002",
language = "Deutsch",
volume = "59",
pages = "277--279",
journal = "NEUROLOGY",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

RIS

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 -