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Keywords: KIT mutation
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Journal Articles
Journal Articles
Subject Area:
Hematology , Oncology
Acta Haematol (2008) 119 (4): 194–198.
Published Online: 20 June 2008
... effector pathways. In humans, germline loss-of-function KIT mutations have been associated with piebaldism – an autosomal dominant condition characterized by depigmented patches of skin and hair. Gain-of-function KIT mutations are usually acquired and have been associated with myeloid malignancies...