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NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

AIMS: CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine‐altering NOTCH3 variants (NOTCH3 ( cys )) leading to vascular NOTCH3 protein aggregation. It has recently been shown that variants located in one of NOTCH3 protein epidermal growth‐factor like repeat (E...

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Detalles Bibliográficos
Autores principales:	Gravesteijn, Gido, Hack, Remco J., Mulder, Aat A., Cerfontaine, Minne N., van Doorn, Remco, Hegeman, Ingrid M., Jost, Carolina R., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291091/ https://www.ncbi.nlm.nih.gov/pubmed/34297860 http://dx.doi.org/10.1111/nan.12751

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