Novel Mutations of the KIT (Mast/Stem Cell Growth Factor Receptor) Proto-Oncogene in Human Piebaldism
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چکیده
منابع مشابه
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
Piebaldism is an autosomal dominant genetic disorder characterized by cogenital patches of skin and hair from which melanocytes are completely absent. A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes and receptor for mast/stem cell growth factor. We identified a KIT gene mutation in a proband with classic autosomal domina...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1993
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12358440