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Volumn 296, Issue 12, 2005, Pages 577-579

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland

Author keywords

Autosomal dominant; Blistering; Cytoskeletal protein

Indexed keywords

CYTOKERATIN 14; DNA; KERATIN;

EID: 20944442465     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-005-0560-1     Document Type: Article
Times cited : (23)

References (7)
  • 1
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases: Hereditary fragility of specific epithelial tissues
    • Corden LD, McLean WH (1996) Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307
    • (1996) Exp Dermatol , vol.5 , pp. 297-307
    • Corden, L.D.1    McLean, W.H.2
  • 3
    • 20944444316 scopus 로고    scopus 로고
    • Genetic diagnosis of epidermolysis bullosa simplex in the Department of Dermatology, Kurume University School of Medicine
    • Hamada T, Kawano Y, Kowalewski C, Karashima M, Yasumoto S, Hashimoto T (2004) Genetic diagnosis of epidermolysis bullosa simplex in the Department of Dermatology, Kurume University School of Medicine (in Japanese). Jpn J Dermatol 114:1415-1420
    • (2004) Jpn J Dermatol , vol.114 , pp. 1415-1420
    • Hamada, T.1    Kawano, Y.2    Kowalewski, C.3    Karashima, M.4    Yasumoto, S.5    Hashimoto, T.6
  • 4
    • 1842454253 scopus 로고    scopus 로고
    • The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation
    • Hamada T, Ishii N, Kawano Y, Takahashi Y, Inoue M, Yasumoto S, Hashimoto T (2004) The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 150:609-611
    • (2004) Br J Dermatol , vol.150 , pp. 609-611
    • Hamada, T.1    Ishii, N.2    Kawano, Y.3    Takahashi, Y.4    Inoue, M.5    Yasumoto, S.6    Hashimoto, T.7
  • 5
    • 2642542355 scopus 로고    scopus 로고
    • A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype
    • Liovic M, Bowden PE, Marks R, Komel R (2004) A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Exp Dermatol 13:332-334
    • (2004) Exp Dermatol , vol.13 , pp. 332-334
    • Liovic, M.1    Bowden, P.E.2    Marks, R.3    Komel, R.4
  • 6
    • 0034990097 scopus 로고    scopus 로고
    • A novel keratin 5 mutation (K5V186L) in a family with EBS-K: A conservative substitution can lead to development of different disease phenotypes
    • Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R (2001) A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. J Invest Dermatol 116:964-969
    • (2001) J Invest Dermatol , vol.116 , pp. 964-969
    • Liovic, M.1    Stojan, J.2    Bowden, P.E.3    Gibbs, D.4    Vahlquist, A.5    Lane, E.B.6    Komel, R.7
  • 7
    • 0031737898 scopus 로고    scopus 로고
    • Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)
    • Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA (1998) Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). J Invest Dermatol 111:893-895
    • (1998) J Invest Dermatol , vol.111 , pp. 893-895
    • Shemanko, C.S.1    Mellerio, J.E.2    Tidman, M.J.3    Lane, E.B.4    Eady, R.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.