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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Autors principals: 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
Idioma:Inglês
Publicat: 1995
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801299/
https://ncbi.nlm.nih.gov/pubmed/7529964
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