Article
Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function.
The FEBS journal - 1 Dec 2016
Nomikos Michail, Thanassoulas Angelos, Beck Konrad, Theodoridou Maria, Kew Jasmine, Kashir Junaid, Calver Brian L, Matthews Emily, Rizkallah Pierre, Sideratou Zili, Nounesis George, Lai F Anthony
Abstract excerpt
Hereditary leukonychia is a rare genetic nail disorder characterized by distinctive whitening of the nail plate of all 20 nails. Hereditary leukonychia may exist as an isolated feature, or in simultaneous occurrence with other cutaneous or systemic pathologies. Associations between hereditary leukonychia and mutations in the gene encoding phospholipase C delta-1 (PLCδ1) have previously been identified. However,...
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