Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation

Hum Genet. 2007 Dec;122(5):558-9.
No abstract available

MeSH terms

  • Adult
  • Amino Acid Substitution
  • CADASIL / genetics*
  • Codon / genetics
  • Exons
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Receptor, Notch3
  • Receptors, Notch / metabolism*

Substances

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