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Volumn 16, Issue 6, 1999, Pages 430-435

Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; KERATIN; LYSINE;

EID: 0033403310     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.1999.00111.x     Document Type: Article
Times cited : (22)

References (19)
  • 3
    • 0026786730 scopus 로고
    • Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21
    • Reis A, Küster W, Eckart R, Sperling K. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum Genet 1992;90:113-116.
    • (1992) Hum Genet , vol.90 , pp. 113-116
    • Reis, A.1    Küster, W.2    Eckart, R.3    Sperling, K.4
  • 4
    • 0026764111 scopus 로고
    • Isolated cases of palmoplantar keratoderma, Unna-Thost type
    • Kansky A, Stanimirovic A, Basta-Juzbasic A. Isolated cases of palmoplantar keratoderma, Unna-Thost type. Cutis 1992;49:406-408.
    • (1992) Cutis , vol.49 , pp. 406-408
    • Kansky, A.1    Stanimirovic, A.2    Basta-Juzbasic, A.3
  • 5
    • 0027942895 scopus 로고
    • Keratin genes and epidermolytic hyperkeratosis
    • Burton JL. Keratin genes and epidermolytic hyperkeratosis. Lancet 1994;344:1103-1104.
    • (1994) Lancet , vol.344 , pp. 1103-1104
    • Burton, J.L.1
  • 6
    • 0030738735 scopus 로고    scopus 로고
    • A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma
    • Endo H, Hatamochi A, Shinkai H. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol 1997;109: 113-115.
    • (1997) J Invest Dermatol , vol.109 , pp. 113-115
    • Endo, H.1    Hatamochi, A.2    Shinkai, H.3
  • 7
    • 0026628604 scopus 로고
    • Allele-specific and asymmetric polymerase chain reaction amplification in combination: A one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100
    • Schuster H, Rauch G, Müller S, Keller C, Wolfram G, Zöllner N. Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100. Anal Biochem 1992;204:22-25.
    • (1992) Anal Biochem , vol.204 , pp. 22-25
    • Schuster, H.1    Rauch, G.2    Müller, S.3    Keller, C.4    Wolfram, G.5    Zöllner, N.6
  • 9
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 0027771149 scopus 로고
    • Molecular characterisation of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence and tissue specificity of gene expression
    • Langbein L, Heid HW, Moll I, Franke WW. Molecular characterisation of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence and tissue specificity of gene expression. Differentiation 1993; 55:57-71.
    • (1993) Differentiation , vol.55 , pp. 57-71
    • Langbein, L.1    Heid, H.W.2    Moll, I.3    Franke, W.W.4
  • 12
    • 0027987869 scopus 로고
    • Keratin gene mutations in human skin disease
    • Stevens HP, Rustin MHA. Keratin gene mutations in human skin disease. Postgrad Med J 1994;70:775-779.
    • (1994) Postgrad Med J , vol.70 , pp. 775-779
    • Stevens, H.P.1    Rustin, M.H.A.2
  • 13
    • 0029905530 scopus 로고    scopus 로고
    • Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation
    • Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. FEBS Lett 1996;386: 149-155.
    • (1996) FEBS Lett , vol.386 , pp. 149-155
    • Kobayashi, S.1    Tanaka, T.2    Matsuyoshi, N.3    Imamura, S.4
  • 14
    • 0032456470 scopus 로고    scopus 로고
    • Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland
    • Covello SP, Irvine AD, McKenna KE, et al. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 1998;6:1207-1209.
    • (1998) J Invest Dermatol , vol.6 , pp. 1207-1209
    • Covello, S.P.1    Irvine, A.D.2    McKenna, K.E.3
  • 16
    • 0028242804 scopus 로고
    • Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
    • Reis A, Hennies HC, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994;6:174-179.
    • (1994) Nat Genet , vol.6 , pp. 174-179
    • Reis, A.1    Hennies, H.C.2    Langbein, L.3
  • 17
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases
    • Corden LD, Lean M. Human keratin diseases. Exp Dermatol 1996;5:297-307.
    • (1996) Exp Dermatol , vol.5 , pp. 297-307
    • Corden, L.D.1    Lean, M.2
  • 18
    • 0028276415 scopus 로고
    • Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
    • Hennies HC, Zehender D, Kunze J, Küster W, Reis A. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 1994;93:649-654.
    • (1994) Hum Genet , vol.93 , pp. 649-654
    • Hennies, H.C.1    Zehender, D.2    Kunze, J.3    Küster, W.4    Reis, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.