Keratin 17 Gene Mutation in a Pedigree with Pachyonychia Congenita type Ⅱ

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Journal Title:
CHINESE JOURNAL OF DERMATOLOGY
Issue:
Volume 36, Issue 02, 2003
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Abstract:

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  • [2]陈喜雪,朱学骏.先天性厚甲症一例.中华皮肤科杂志,2000,33:253.
  • [3]尹秀芝.一家三代九例先天性厚甲综合征.中华皮肤科杂志,2000,33: 287.
  • [4]Connors JB, Rahil AK, Smith FJ, et al. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol, 2001,144:1058-1062
  • [5]McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet, 1995,9:273-278.
  • [6]Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet, 1998,7:1143-1148.
  • [7]Smith FJ, Coleman CM, Bayoumy NM, et al. Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol, 2001,116:806-808.
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