Article
Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene.
Clinical and experimental dermatology - 1 Dec 2009
Ding Y G, Fang H, Lao L M, Jiang X J, Chen H C
Abstract excerpt
Hailey-Hailey disease (HHD; OMIM 169600), is an autosomal dominantly inherited disorder characterized by suprabasal cell separation of the epidermis. Mutations in ATP2C1, which encodes the human secretory pathway Ca(2+)/ Mn(2) +/- ATPase protein 1 (hSPCA1), have been identified as the pathogenic gene of HHD without evidence of genetic heterogeneity. In this study, the ATP2C1 gene was screened in two typical...
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