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Identification of a Known Mutation in Notch 3 in Familiar CADASIL in China

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to recurrent ischemic stroke and vascular dementia. Numerous mutations in the 23 exons of the NOTCH3 gene have been reported to cause CADASIL in Caucasian...

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Detalles Bibliográficos
Autores principales: Tan, Zhen-Xuan, Li, Fei-Feng, Qu, You-Yang, Liu, Ji, Liu, Gui-Rong, Zhou, Jin, Zhu, Yu-Lan, Liu, Shu-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356370/
https://www.ncbi.nlm.nih.gov/pubmed/22623959
http://dx.doi.org/10.1371/journal.pone.0036590