Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and results in a phenotype characterised by recurrent strokes, vascular dementia and migraines. Whilst a genetic basis for the disease is known, the molec...

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Detalles Bibliográficos
Autores principales: Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449969/
https://www.ncbi.nlm.nih.gov/pubmed/37422595
http://dx.doi.org/10.1007/s00439-023-02584-8

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