Article
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease.
The British journal of dermatology - 1 Sept 2003
Li H, Sun X-K, Zhu X-J
Abstract excerpt
BACKGROUND: Familial benign chronic pemphigus or Hailey-Hailey disease (HHD; OMIM 169600) is an autosomal dominant blistering disease. Pathogenic mutations in ATP2C1 encoding a novel Ca2+ pump have recently been identified. OBJECTIVES: To identify mutations in ATP2C1 in Chinese patients with HHD....
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