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A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene

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참고문헌 (5)

  1. Hu Z, "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease", Nat Genet, 24, pp.61~65 (2000)
  2. Dobson-Stone C, "Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1gene", J Invest Dermatol, 118, pp.338~343 (2002)
  3. Matsuda M, "Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease", Exp Dermatol, 23, pp.514~516 (2014)
  4. Btadini W, "Identification of several mutations in ATP2C1in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease", PLoS One, 10, pp.e0115530~ (2015)
  5. Kellermayer R, "Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease", J Invest Dermatol, 126, pp.229~231 (2006)

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