Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of c...

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Detalles Bibliográficos
Autores principales: Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Natalia, Carrera, Caty, Torres, Nuria, Krupinski, Jurek, Roquer, Jaume, Montaner, Joan, Fernández-Cadenas, Israel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618613/
https://www.ncbi.nlm.nih.gov/pubmed/28902129
http://dx.doi.org/10.3390/ijms18091964

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