Journal of Dermatological Science
Volume 58, Issue 1 , Pages 80-82 , April 2010

Six novel ATP2C1 mutations identified in Chinese patients with Hailey–Hailey disease

Received 1 October 2009

References 

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  2. Chun SI, Whang KC, Su WP. Squamous cell carcinoma arising in Hailey–Hailey disease. J Cutan Pathol. 1988;5:234–237
  3. Amagai M, Kobayashi M, Wakabayashi K. A case of generalized Hailey–Hailey disease with fatal liver injury. Keio J Med. 2001;50:109–116
  4. Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, et al. Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump. Hum Mol Genet. 2000;9:1131–1140
  5. Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Invest Dermatol. 2003;121:688–694
  6. Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, et al. SPCA1 pumps and Hailey–Hailey disease. Biochem Biophys Res Commun. 2004;322:1204–1213
  7. Hamada T, Fukuda S, Sakaguchi S, Yasumoto S, Kim SC, Hashimoto T. Molecular and clinical characterization in Japanese and Korean patients with Hailey–Hailey disease: six new mutations in the ATP2C1 gene. J Dermatol Sci. 2008;51:31–36
  8. Zhu YG, Yang S, Gao M, Chen JJ, Li W, Wang PG, et al. Two novel mutations of the ATP2C1 gene in Chinese families with Hailey–Hailey disease. J Dermatol Sci. 2006;42:125–127
  9. Zhang F, Yan X, Jiang D, Tian H, Wang C, Yu L. Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey–Hailey disease. Dermatology. 2007;215:277–283
  10. Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, et al. Hailey–Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol. 2002;118:338–343

PII: S0923-1811(10)00043-5

doi: 10.1016/j.jdermsci.2010.01.005

Journal of Dermatological Science
Volume 58, Issue 1 , Pages 80-82 , April 2010

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