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Volumn 29, Issue 3, 2004, Pages 308-310

A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE; KERATIN; NUCLEOTIDE;

EID: 2442707890     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01497.x     Document Type: Article
Times cited : (13)

References (9)
  • 1
    • 0002207953 scopus 로고
    • Zur Kenntnis des Keratoma hereditarium palmare et plantare
    • Vörner H. Zur Kenntnis des Keratoma hereditarium palmare et plantare. Arch Dermatol Syph 1901; 56: 3-31.
    • (1901) Arch Dermatol Syph , vol.56 , pp. 3-31
    • Vörner, H.1
  • 2
    • 0028906628 scopus 로고
    • Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma
    • Navsaria HA, Swensson O, Ratnavel RC et al. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol 1995; 104: 425-9.
    • (1995) J Invest Dermatol , vol.104 , pp. 425-429
    • Navsaria, H.A.1    Swensson, O.2    Ratnavel, R.C.3
  • 3
    • 0034907507 scopus 로고    scopus 로고
    • Genes for intermediate filament proteins 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
    • Hesse M, Magin TM, Weber K. Genes for intermediate filament proteins 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: 2569-75.
    • (2001) J Cell Sci , vol.114 , pp. 2569-2575
    • Hesse, M.1    Magin, T.M.2    Weber, K.3
  • 4
    • 0032965997 scopus 로고    scopus 로고
    • Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
    • Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999; 140: 815-28.
    • (1999) Br J Dermatol , vol.140 , pp. 815-828
    • Irvine, A.D.1    McLean, W.H.2
  • 5
    • 0022454679 scopus 로고
    • Cytokeratin, 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity
    • Knapp AC, Franke WW, Held H, Hatzfeld M, Jorcano JL, Moll R. Cytokeratin, 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity. J Cell Biol 1986; 103: 657-67.
    • (1986) J Cell Biol , vol.103 , pp. 657-667
    • Knapp, A.C.1    Franke, W.W.2    Held, H.3    Hatzfeld, M.4    Jorcano, J.L.5    Moll, R.6
  • 6
    • 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, Kuster W, Eckardt 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: 113-6.
    • (1992) Hum Genet , vol.90 , pp. 113-116
    • Reis, A.1    Kuster, W.2    Eckardt, R.3    Sperling, K.4
  • 7
    • 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: 174-9.
    • (1994) Nat Genet , vol.6 , pp. 174-179
    • Reis, A.1    Hennies, H.C.2    Langbein, L.3
  • 8
    • 0036375489 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar keratoderma of Vörner: Re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation
    • Kuster W, Reis A, Hennies HC. Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res 2002; 294: 268-72.
    • (2002) Arch Dermatol Res , vol.294 , pp. 268-272
    • Kuster, W.1    Reis, A.2    Hennies, H.C.3
  • 9
    • 0027435278 scopus 로고
    • Diversity of intermediate filament structure. Evidence that the alignment of coiled-coil molecules in vimentin is different from that in keratin intermediate filaments
    • Steinert PM, Marekov LN, Parry DA. Diversity of intermediate filament structure. Evidence that the alignment of coiled-coil molecules in vimentin is different from that in keratin intermediate filaments. J Biol Chem 1993; 268: 24916-25.
    • (1993) J Biol Chem , vol.268 , pp. 24916-24925
    • Steinert, P.M.1    Marekov, L.N.2    Parry, D.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.