메뉴 건너뛰기




Volumn 22, Issue 12, 2008, Pages 1510-1512

Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5;

EID: 56749179464     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2008.02687.x     Document Type: Letter
Times cited : (6)

References (7)
  • 1
    • 0031052765 scopus 로고    scopus 로고
    • Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
    • Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 1997 108 : 349 353.
    • (1997) J Invest Dermatol , vol.108 , pp. 349-353
    • Stephens, K.1    Ehrlich, P.2    Weaver, M.3    Le, R.4    Spencer, A.5    Sybert, V.P.6
  • 2
    • 0026612429 scopus 로고
    • A leucine - Proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
    • Chipev CC, Korge BP, Markova N et al. A leucine - proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992 70 : 821 828.
    • (1992) Cell , vol.70 , pp. 821-828
    • Chipev, C.C.1    Korge, B.P.2    Markova, N.3
  • 3
    • 0026640553 scopus 로고
    • The roles of K5 and K14 head, tail, and R/K L L e G e domains in keratin filament assembly in vitro
    • Wilson AK, Coulombe PA, Fuchs E. The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro. J Cell Biol 1992 119 : 401 414.
    • (1992) J Cell Biol , vol.119 , pp. 401-414
    • Wilson, A.K.1    Coulombe, P.A.2    Fuchs, E.3
  • 4
    • 0028290358 scopus 로고
    • Function of type I and type II keratin head domains: Their role in dimer, tetramer and filament formation
    • Hatzfeld M, Burba M. Function of type I and type II keratin head domains: their role in dimer, tetramer and filament formation. J Cell Sci 1994 107 : 1959 1972.
    • (1994) J Cell Sci , vol.107 , pp. 1959-1972
    • Hatzfeld, M.1    Burba, M.2
  • 5
    • 0034003401 scopus 로고    scopus 로고
    • Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis
    • Hut PH, v VP, Jonkman MF et al. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. J Invest Dermatol 2000 114 : 616 619.
    • (2000) J Invest Dermatol , vol.114 , pp. 616-619
    • Hut, P.H.1    v.d. Vlies, P.2    Jonkman, M.F.3
  • 6
    • 0037387857 scopus 로고    scopus 로고
    • Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
    • Schuilenga-Hut PH, Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutat 2003 21 : 447.
    • (2003) Hum Mutat , vol.21 , pp. 447
    • Schuilenga-Hut, P.H.1    Vlies, P.2    Jonkman, M.F.3    Waanders, E.4    Buys, C.H.5    Scheffer, H.6
  • 7
    • 0344838390 scopus 로고    scopus 로고
    • Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients
    • Wood P, Baty DU, Lane EB, McLean WH. Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 2003 120 : 495 497.
    • (2003) J Invest Dermatol , vol.120 , pp. 495-497
    • Wood, P.1    Baty, D.U.2    Lane, E.B.3    McLean, W.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.