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...

Descripción completa

Guardado en:
Detalles Bibliográficos
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
Materias:
Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3861349/
https://ncbi.nlm.nih.gov/pubmed/23597439
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares