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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Neurology
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Lippincott Williams & Wilkins 2020
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7682826/
https://ncbi.nlm.nih.gov/pubmed/32732295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000010525
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