Article
Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.
Functional neurology - 1 Jan 2000
Bersano Anna, Ranieri Michela, Ciammola Andrea, Cinnante Claudia, Lanfranconi Silvia, Dotti Maria Teresa, Candelise Livia, Baschirotto Cinzaia, Ghione Isabella, Ballabio Elena, Bresolin Nereo, Bassi Maria Teresa
Abstract excerpt
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 CADASIL-like phenotype, carrying a novel cysteine-sparing mutation in exon 29 of the NOTCH3 gene, and discuss the possible...
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