Three novel mutations of the proto-oncogene KIT cause human piebaldism

Am J Med Genet. 2000 Nov 6;95(1):79-81. doi: 10.1002/1096-8628(20001106)95:1<79::aid-ajmg16>3.0.co;2-4.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Child
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Male
  • Mutation, Missense
  • Piebaldism / genetics*
  • Piebaldism / pathology
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • DNA
  • Proto-Oncogene Proteins c-kit