Article
Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism.
The Journal of investigative dermatology - 1 Nov 1996
Fleischman R A, Gallardo T, Mi X
Abstract excerpt
Heterozygous mutations in the gene for the Kit transmembrane receptor have been identified recently in human piebaldism and mouse "dominant spotting." Interestingly, all of the 14 known missense mutations that cause depigmentation in these species map to the tyrosine kinase domain of the receptor...
Topics
- Binding Sites
- Codon
- Heterozygote
- Humans
- Ligands
- Mutation
- Piebaldism
- Polymorphism, Single-Stranded Conformational
- Proto-Oncogene Proteins c-kit