Article
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Nature genetics - 1 Jan 2000
Hu Z, Bonifas J M, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein E H
Abstract excerpt
Hailey-Hailey disease (HHD, MIM 16960) is inherited in an autosomal dominant manner and characterized by persistent blisters and erosions of the skin. Impaired intercellular adhesion and epidermal blistering also occur in individuals with pemphigus (which is due to autoantibodies directed against desmosomal proteins) and in patients with Darier disease (DD, MIM 124200), which is caused by mutations in a gene...
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