Article
Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease.
Clinical and experimental dermatology - 1 Sept 2005
Rácz E, Csikós M, Kárpáti S
Abstract excerpt
Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been...
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