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<i>KIT</i> and Mastocytosis

1 Jan 2008

Abstract excerpt

KIT is a receptor tyrosine kinase that is functionally relevant for hematopoiesis, mast cell development and function, gametogenesis and melanogenesis. Normal KIT signaling requires binding to stem cell factor, and PI3K-Akt is one of the putative effector pathways. In humans, germline loss-of-function KIT mutations have been associated with piebaldism - an autosomal dominant condition characterized by depigmented...

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PMID: 18566536
DOI: 10.1159/000140630

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