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遗传性皮肤病进展

Progress on Genodermatosis
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作者 杨勇
出处 《继续医学教育》 2006年第23期57-59,共3页 Continuing Medical Education
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  • 2吴安,中华皮肤科杂志,1997年,30卷,221页
  • 3Bonifas JM, Rothman AL, Epstein EH Jr, et al. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities[J]. Science, 1991, 254(5035): 1202-205.
  • 4Steinert PM. et al. Structure, function, and dynamics of keratin intermediate filaments[J]. J Invest Dermatol, 1993, 100(6): 729-734.
  • 5Fuchs E.et al. Genetic skin disorders of keratin [J]. J Invest Dermatol, 1992, 99(6): 671-674.
  • 6Albers KM.et al. Keratin biochemistry[J]. Clin Dermatol, 1996,14(4): 309-320.
  • 7Liovic M, Stojan J, Bowden PE, et al. A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes [J]. J Invest Dermatol, 2001, 116(6): 964-969.
  • 8Humphries MM, Mansergh FC, Kiang AS, et al. Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland [J].Hum Mutat, 1996, 8(1): 57-63.
  • 9Freedberg IM, Eisen AZ, Wolff K, et al. Fitzpatrick's DermatologyIn General Medicine. 5th ed. New York: McGraw-Hill, 1999. 587.
  • 10Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science, 1995, 267:525-528.

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