A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset cerebral small vessel disorder caused by the mutations of the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The extracellular part of NOTCH3 is composed of 34 epidermal gr...

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Detalles Bibliográficos
Autores principales: Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123979/
https://www.ncbi.nlm.nih.gov/pubmed/25098330
http://dx.doi.org/10.1371/journal.pone.0104533

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123979/
https://www.ncbi.nlm.nih.gov/pubmed/25098330
http://dx.doi.org/10.1371/journal.pone.0104533

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