Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree

Hum Mutat. 2000 Nov;16(5):449-50. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU26>3.0.CO;2-I.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • Australia
  • Cysteine / genetics*
  • Dementia, Multi-Infarct / genetics*
  • Humans
  • Leukoencephalopathy, Progressive Multifocal / genetics
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenylalanine / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Receptor, Notch3
  • Receptors, Cell Surface / genetics
  • Receptors, Notch

Substances

  • NOTCH3 protein, human
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch
  • Phenylalanine
  • Cysteine