Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance

OBJECTIVE: To determine the small vessel disease spectrum associated with cysteine-altering NOTCH3 variants in community-dwelling individuals by analyzing the clinical and neuroimaging features of UK Biobank participants harboring such variants. METHODS: The exome and genome sequencing datasets of t...

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Detalles Bibliográficos
Autores principales: Rutten, Julie W., Hack, Remco J., Duering, Marco, Gravesteijn, Gido, Dauwerse, Johannes G., Overzier, Maurice, van den Akker, Erik B., Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682826/
https://www.ncbi.nlm.nih.gov/pubmed/32732295
http://dx.doi.org/10.1212/WNL.0000000000010525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682826/
https://www.ncbi.nlm.nih.gov/pubmed/32732295
http://dx.doi.org/10.1212/WNL.0000000000010525

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