Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and c...

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Detalles Bibliográficos
Autores principales: Choi, Byung Woo, Park, Seongho, Kim, Hee-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Dementia Association 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427975/
https://www.ncbi.nlm.nih.gov/pubmed/30906341
http://dx.doi.org/10.12779/dnd.2016.15.2.52

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427975/
https://www.ncbi.nlm.nih.gov/pubmed/30906341
http://dx.doi.org/10.12779/dnd.2016.15.2.52

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