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弥漫性掌跖角化症一家系8例报告 被引量:1

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出处 《中国优生与遗传杂志》 2002年第1期122-122,共1页 Chinese Journal of Birth Health & Heredity
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  • 1Kelsell DP, Stevens HP. The palmoplantar keratodermas: much more than palms and soles. Mol Med Today, 1999, 5:107-113.
  • 2Smith FJD. The molecular genetics of keratin disorders. Am J Clin Dermatol, 2003,4: 347-364.
  • 3Reis A, Hennies HC, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet, 1994,6: 174-179.
  • 4Navsaria HA, Swensson O, Ratnavel RC, et al. Ultrastructual changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol,1995. 104: 425-429.
  • 5Coleman CM, Munro CS, Smith FJ, et al. Epidermolytie palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Br J Dermatol,1999, 140: 486-490.
  • 6Kobayashi S, Tanaka T, Matsuyoshi N, et al. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.FEBS Lett, 1996, 386: 149-155.
  • 7Lu Y, Guo C, Liu Q, et al. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am J Med Genet, 2003, 120A: 345-349.
  • 8Yang MH, Lee JY, Lin JH, et al. De novo mutation of keratin 9 gene in two Taiwan Residents patients with epidermolytic palmoplantar keratoderma. J Formos Med Assoc, 2003, 102: 492-496.
  • 9朱学骏,陈喜雪,李冠群,杨勇,马玲蕾,董慧婷,吴安,谢艳秋.角蛋白相关遗传性皮肤病基因突变的研究进展[J].中华皮肤科杂志,2001,34(5):403-404. 被引量:17
  • 10孙秀坤,朱学骏.表皮松解性角化过度型鱼鳞病二例及其基因突变的研究[J].中华皮肤科杂志,2003,36(4):185-188. 被引量:9

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