High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

J Neurol. 2010 Jun;257(6):1039-42. doi: 10.1007/s00415-010-5481-z. Epub 2010 Feb 19.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • CADASIL / genetics*
  • Cohort Studies
  • DNA Mutational Analysis
  • Exons*
  • Family
  • Female
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype*
  • Receptor, Notch3
  • Receptors, Notch / genetics*
  • White People / genetics

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch