Article
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
The Journal of investigative dermatology - 1 Feb 2002
Dobson-Stone Carol, Fairclough Rebecca, Dunne Eimear, Brown Joanna, Dissanayake Manel, Munro Colin S, Strachan Tom, Burge Susan, Sudbrak Ralf, Monaco Anthony P, Hovnanian Alain
Abstract excerpt
Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type Ca2+-transport ATPase, were recently found to cause Hailey-Hailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families...
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