메뉴 건너뛰기




Volumn 107, Issue 2, 1996, Pages 253-254

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

Author keywords

Tonofilament clump

Indexed keywords

KERATIN;

EID: 9344267213     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12329741     Document Type: Article
Times cited : (19)

References (13)
  • 3
    • 0025861772 scopus 로고
    • Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients. Genetic and functional analyses
    • Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients. Genetic and functional analyses. Cell 66:1301-1311, 1991
    • (1991) Cell , vol.66 , pp. 1301-1311
    • Coulombe, P.A.1    Hutton, M.E.2    Letai, A.3    Hebert, A.4    Paller, A.S.5    Fuchs, E.6
  • 5
    • 0025992821 scopus 로고
    • Epidermolysis bullosa simplex (Dowling-Meara Type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14
    • Ishida-Yamamoto A, McGrath JA, Chapman SJ, Leigh IM, Lane EB, Eady RAJ: Epidermolysis bullosa simplex (Dowling-Meara Type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 97:959-968, 1991
    • (1991) J Invest Dermatol , vol.97 , pp. 959-968
    • Ishida-Yamamoto, A.1    McGrath, J.A.2    Chapman, S.J.3    Leigh, I.M.4    Lane, E.B.5    Eady, R.A.J.6
  • 10
    • 0027316910 scopus 로고
    • A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis
    • Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A: A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol 101:240-244, 1993
    • (1993) J Invest Dermatol , vol.101 , pp. 240-244
    • Stephens, K.1    Sybert, V.P.2    Wijsman, E.M.3    Ehrlich, P.4    Spencer, A.5
  • 11
    • 0030042541 scopus 로고    scopus 로고
    • A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex
    • Umeki K, Nomura K, Harada K, Hashimoto I: A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex. J Dermatol Sci 11:64-69, 1996
    • (1996) J Dermatol Sci , vol.11 , pp. 64-69
    • Umeki, K.1    Nomura, K.2    Harada, K.3    Hashimoto, I.4
  • 12
    • 0025976155 scopus 로고
    • Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
    • Vassar R, Coulombe PA, Degenstein L, Alberts K, Fuchs E: Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-380, 1991
    • (1991) Cell , vol.64 , pp. 365-380
    • Vassar, R.1    Coulombe, P.A.2    Degenstein, L.3    Alberts, K.4    Fuchs, E.5
  • 13
    • 0028180965 scopus 로고
    • A novel mutation of leu 122 to phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin K14 in epidermolysis bullosa simplex
    • Yamanishi K, Matsuki M, Konishi K, Yasuno H: A novel mutation of leu 122 to phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin K14 in epidermolysis bullosa simplex. Hum Mol Genet 3:1171-1172, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 1171-1172
    • Yamanishi, K.1    Matsuki, M.2    Konishi, K.3    Yasuno, H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.