Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain

J Dermatol Sci. 2014 Oct;76(1):74-6. doi: 10.1016/j.jdermsci.2014.07.009. Epub 2014 Aug 7.
No abstract available

Keywords: KIT; MC1R; Piebaldism; Tyrosine kinase.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Base Sequence
  • Child, Preschool
  • Cytoplasm / metabolism
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Piebaldism / genetics
  • Polymerase Chain Reaction
  • Protein Structure, Tertiary
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins c-kit / genetics*
  • Proto-Oncogene Proteins c-kit / metabolism
  • Receptor, Melanocortin, Type 1 / genetics*
  • Receptor, Melanocortin, Type 1 / metabolism
  • Republic of Korea

Substances

  • Receptor, Melanocortin, Type 1
  • Protein-Tyrosine Kinases
  • Proto-Oncogene Proteins c-kit