A germline mutation in KIT in familial diffuse cutaneous mastocytosis

J Med Genet. 2004 Jun;41(6):e88. doi: 10.1136/jmg.2003.015156.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 4 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Linkage
  • Genotype
  • Germ-Line Mutation*
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Mastocytosis, Cutaneous / genetics*
  • Mastocytosis, Cutaneous / pathology
  • Microsatellite Repeats
  • Pedigree
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • DNA
  • Proto-Oncogene Proteins c-kit

Associated data

  • OMIM/164920