NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants

BACKGROUND: Cysteine-altering NOTCH3 variants identical to those causing the rare monogenic form of stroke, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), have been reported more common than expected in the general population, but their clinical...

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Detalles Bibliográficos
Autores principales: Cho, Bernard P H, Nannoni, Stefania, Harshfield, Eric L, Tozer, Daniel, Gräf, Stefan, Bell, Steven, Markus, Hugh S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Cerebrovascular Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223663/
https://www.ncbi.nlm.nih.gov/pubmed/33712516
http://dx.doi.org/10.1136/jnnp-2020-325838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223663/
https://www.ncbi.nlm.nih.gov/pubmed/33712516
http://dx.doi.org/10.1136/jnnp-2020-325838

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