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Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant

Some missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear. We describe a 49-year-old woman with a CADASI...

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Autores principales: Bersano, Anna, Ranieri, Michela, Ciammola, Andrea, Cinnante, Claudia, Lanfranconi, Silvia, Dotti, Maria Teresa, Candelise, Livia, Baschirotto, Cinzia, Ghione, Isabella, Ballabio, Elena, Bresolin, Nereo, Bassi, Maria Teresa
Formato: Artigo
Lenguaje:Inglês
Publicado: CIC Edizioni Internationali 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3861349/
https://ncbi.nlm.nih.gov/pubmed/23597439
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