Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL

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

MeSH terms

  • Amino Acid Substitution
  • CADASIL / genetics*
  • Codon / genetics
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Receptor, Notch3
  • Receptors, Notch / metabolism*

Substances

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