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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801299/
https://ncbi.nlm.nih.gov/pubmed/7529964
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