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家族性良性慢性天疱疮1家系15例

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出处 《中国麻风皮肤病杂志》 2005年第8期646-647,共2页 China Journal of Leprosy and Skin Diseases
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参考文献8

  • 1Domonkos AN,Arnold HL,Odom RB.Andrews'disease of the skin.8th ed,New York:WB Saunders Company,1990,651.
  • 2Sudbrak R,Brown J,Dobson-Stone C,et al.Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca^2+ pump.lHum Mol Genet 2000;9:1131-1140.
  • 3Hu Z,Bonifas JM,Beech J,et al.Mutations in ATP2C1,encoding a calcium pump,cause Hailey-Hailey disease,Nat Genet 2000;24:61-65.
  • 4Chao SC,Yang MH,Lee JY.Mutation analysis of the ATP2A2 gene in Taiwan Residents patients with Darier's disease.Br J Dermatol 2002;146:958-963.
  • 5Ikeda S,Shigihara T,Mayuzumi N,et al.Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease:intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns.J Invest Dermatol 2001;117:1654-1656.
  • 6Yokota K,Yasukawa K,Shimizu H.Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.J Invest Dermatol 2002;118:550-551.
  • 7Dobson-Stone C,Fairclough R,Dunne E,et al.Hailey-Hailey disease:Molecular and clinical characterization of novel mutations in the ATP2C1 gene.J Invest Dermatol 2002;118:338-343.
  • 8尹朝华,王宝玺,马东来.一家族性良性天疱疮家系致病基因的研究[J].中华皮肤科杂志,2003,36(9):507-509. 被引量:6

二级参考文献6

  • 1Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.Hum Mol Genet, 2000, 9: 1131-1140.
  • 2Hu Z, Bonifas JM, Beech J, et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24:61-65.
  • 3Chao SC, Yang MH, Lee JY. Mutation analysis of the ATP2A2 gene in Taiwan Residents patients with Darier's disease. Br J Dermatol, 2002,146:958-963.
  • 4Ikeda S, Shigihara T, Mayuzumi N, et al. Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol, 2001, 117:1654-1656.
  • 5Yokota K, Yasukawa K, Shimizu H. Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. J Invest Dermatol, 2002, 118: 550-551.
  • 6Dobson-Stone C, Fairclough R, Dunne E, et al. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol, 2002, 118:338-343.

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