Article
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
Clinical and experimental dermatology - 1 Mar 2014
Wang H J, Lin Z M, Zhang J, Yin J H, Yang Y
Abstract excerpt
Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report...
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