Article
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
American journal of human genetics - 1 Jan 1995
Ezoe K, Holmes S A, Ho L, Bennett C P, Bolognia J L, Brueton L, Burn J, Falabella R, Gatto E M, Ishii N
Abstract excerpt
Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by white patches of skin and hair. Melanocytes are lacking in these hypopigmented regions, the result of mutations of the KIT gene, which encodes the cell surface receptor for steel factor (SLF). We describe the analysis of 26 unrelated patients with piebaldism-like hypopigmentation--17 typical patients, 5 with atypical clinical...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genes
- Genes, Dominant