Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

Neurology. 2000 May 9;54(9):1874-5. doi: 10.1212/wnl.54.9.1874.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence / genetics
  • Amino Acids / genetics*
  • Chromosome Deletion*
  • DNA Mutational Analysis*
  • Dementia, Multi-Infarct / diagnosis
  • Dementia, Multi-Infarct / genetics*
  • Humans
  • Proto-Oncogene Proteins / genetics*
  • RNA Splicing / genetics*
  • Receptor, Notch3
  • Receptors, Cell Surface*
  • Receptors, Notch

Substances

  • Amino Acids
  • NOTCH3 protein, human
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch