Novel Mutations and Deletions of the KIT (Steel Factor Receptor) Gene in Human Piebaldism

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 analy...

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Bibliographic Details
Main Authors:	Ezoe, Kazuhiko, Holmes, Stuart A., Ho, Lingling, Bennett, Christopher P., Bolognia, Jean L., Brueton, Louise, Burn, John, Falabella, Rafael, Gatto, Emilia M., Ishii, Norihisa, Moss, Celia, Pittelkow, Mark R., Thompson, Elizabeth, Ward, K. Anne, Spritz, Richard A.
Format:	Artigo
Language:	Inglês
Published:	1995
Subjects:	Original Articles
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1801299/ https://ncbi.nlm.nih.gov/pubmed/7529964
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Novel Mutations and Deletions of the KIT (Steel Factor Receptor) Gene in Human Piebaldism

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