Human piebaldism is a rare autosomal dominant disorder that comprises congenital patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by mutations in the cell-surface receptor tyrosine kinase gene (KIT, also c-kit). We screened three families and three isolated cases of piebal
Three novel mutations of the proto-oncogeneKIT cause human piebaldism
β Scribed by Syrris, Petros ;Malik, Nasser M. ;Murday, Victoria A. ;Patton, Michael A. ;Carter, Nicholas D. ;Hughes, Helen E. ;Metcalfe, Kay
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 55 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0148-7299
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