Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease.
Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump.
DOI: 10.1046/j.1365-2133.2002.04697.x
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