Article
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
The Journal of dermatology - 1 Apr 2013
Green Elaine K, Gordon-Smith Katherine, Burge Susan M, Grozeva Detelina, Munro Colin S, Tavadia Sherine, Jones Lisa, Craddock Nicholoas
Abstract excerpt
Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which...
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