[an error occurred while processing this directive] ����Ƥ���Բ�ѧ��־ 2004, 30(6) 381-383 DOI:     ISSN: 2096-5540 CN: 32-1880/R

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[1] Hesse M, Magin TM, Weber K. Genes for intermediate filament proteiris and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. J Cell Sci, 2001, 114:2569-2575.
[2] Smith TA, Strelkov SV, Burkhard P,et al. Sequence comparisons of intermediate filament chains: evideuce of a unique functional/structural role for coiled-coil segment lA and linker L1. J Struct Biol,2002, 137:128-145.
[3] Nakano A, Pfendner E, Hashimoto 1, et al. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol, 2000, 115:493-498.
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[7] Cummins RE, Klingberg S, Wesley J, et al. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol, 2001, 117: 1103-1107.
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[10] Yang JM, Nam K, Kim SW, et al. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. J Dermatol Sci, 1999, 19:126-133.
[11] Joh GY, Traupe H, Metze D, et al. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol, 1997, 108:357-361.
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[13] Terrinoni A, Smith FJ, Didona B, et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol, 2001, 117:1391-1396.
[14] Covello SP, Smith FJ, Sillevis Smitt JH, et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol, 1998, 139:475-480.
[15] Coleman CM, Munro CS, Smith FJ, et al. Epidermolytic 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.
[16] Shamsher MK, Navsaria HA, Stevens HP, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet, 1995, 4:1875-1881.
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