Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL

BACKGROUND AND OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by a cysteine-altering variant in 1 of the 34 epidermal growth factor-like repeat (EGFR) domains of the NOTCH3 protein. CADASIL has a variable phenotypic presenta...

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Detalles Bibliográficos
Autores principales: Cho, Bernard P.H., Jolly, Amy A., Nannoni, Stefania, Tozer, Daniel, Bell, Steven, Markus, Hugh S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421602/
https://www.ncbi.nlm.nih.gov/pubmed/35641310
http://dx.doi.org/10.1212/WNL.0000000000200744

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