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...

Full description

Autores:

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.

Tipo de recurso:

Article of investigation

Fecha de publicación:

2002

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/24425

Acceso en línea:

http://hdl.handle.net/10495/24425

Palabra clave:

Receptor Notch3
Receptor, Notch3
CADASIL
Accidente Cerebrovascular
Stroke

Rights

openAccess

License

http://creativecommons.org/licenses/by-nc-nd/2.5/co/