A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel mutation in the NOTCH3 gene. The patient's clinical features were rather unusual...

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Detalles Bibliográficos
Autores principales: Moon, So-Young, Kim, Hahn-Young, Seok, Jung-Im, Kwon, Jae-Chul, Ki, Chang-Seok, Kim, Jong-Won, Suh, Yeon-Lim, Na, Duk L.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2003
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055005/
https://www.ncbi.nlm.nih.gov/pubmed/12589106

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