Article
Novel R634W c-kit mutation identified in familial mastocytosis.
Pediatric dermatology - 1 Jan 2000
Pollard Whitney L, Beachkofsky Thomas M, Kobayashi Todd T
Abstract excerpt
Familial mastocytosis is a well-documented but rare entity, with fewer than 100 cases reported in the literature. The etiology has most commonly been linked to activating c-kit mutations, with several mutations reported to date. We present a novel familial mastocytosis-associated c-kit mutation (R634W) in three siblings with urticaria pigmentosa. This mutation has been previously described in mucosal melanoma,...
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