Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions

OBJECTIVE: To conduct a clinical study of a family with neurologic symptoms and findings carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the mutation. METHODS: We analyzed a family with complex neurologic symptoms by MRI and neurologic examinations. Exome sequencing of...

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Detalles Bibliográficos
Autores principales: Arnardottir, Snjolaug, Del Gaudio, Francesca, Klironomos, Stefanos, Braune, Eike-Benjamin, Lombraña, Ariane Araujo, Oliveira, Daniel V., Jin, Shaobo, Karlström, Helena, Lendahl, Urban, Sjöstrand, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063633/
https://www.ncbi.nlm.nih.gov/pubmed/33898742
http://dx.doi.org/10.1212/NXG.0000000000000584

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