Study on keratin genes mutation in four Chinese families with epidermolysis bullosa simplex.

被引:0
|
作者
Li, GQ [1 ]
Zhu, XJ [1 ]
机构
[1] Beijing Med Univ, Teaching Hosp 1, Dept Dermatol, Beijing 100083, Peoples R China
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:621 / 621
页数:1
相关论文
共 50 条
  • [21] Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex
    Zeng, Kang
    Duan, Yan
    Liang, Yan-Hua
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (10) : E466 - E468
  • [22] Epidermolysis bullosa simplex with mottled pigmentation caused by a novel keratin 5 gene mutation
    Mellerio, J. E.
    Harper, J. I.
    Martinez, A. E.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 (06) : 1237 - 1237
  • [23] A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex
    Flohil, Sophie C.
    Bolling, Maria C.
    Kooi, Kristia A.
    Lemmink, Henny H.
    Jonkman, Marcel F.
    EUROPEAN JOURNAL OF DERMATOLOGY, 2010, 20 (01) : 27 - 29
  • [24] A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex
    Li, JG
    Feng, J
    Xiao, SX
    Ai, YL
    Wang, JM
    Peng, ZH
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2004, 29 (05) : 539 - 541
  • [25] Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene
    Schumann, H.
    Roth, W.
    Has, C.
    Volz, A.
    Erfurt-Berge, C.
    Magin, T. M.
    Bruckner-Tuderman, L.
    BRITISH JOURNAL OF DERMATOLOGY, 2012, 167 (04) : 929 - 936
  • [26] Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex - Increased severity of disease in a homozygote
    Hu, ZL
    Smith, L
    Martins, S
    Bonifas, JM
    Chen, H
    Epstein, EH
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (03) : 360 - 364
  • [27] EPIDERMOLYSIS-BULLOSA SIMPLEX (KOEBNER) IS A KERATIN DISORDER - ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL STUDY
    ITO, M
    OKUDA, C
    SHIMIZU, N
    TAZAWA, T
    SATO, Y
    ARCHIVES OF DERMATOLOGY, 1991, 127 (03) : 367 - 372
  • [28] A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
    Batta, K
    Rugg, EL
    Wilson, NJ
    West, N
    Goodyear, H
    Lane, EB
    Gratian, M
    Dopping-Hepenstal, P
    Moss, C
    Eady, RAJ
    BRITISH JOURNAL OF DERMATOLOGY, 2000, 143 (03) : 621 - 627
  • [29] KERATIN EXPRESSION IN EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA)
    TIDMAN, MJ
    EADY, RAJ
    LEIGH, IM
    MACDONALD, DM
    ACTA DERMATO-VENEREOLOGICA, 1988, 68 (01) : 15 - 20
  • [30] Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations
    Rugg, Elizabeth L.
    Horn, Helen M.
    Smith, Frances J.
    Wilson, Neil J.
    Hill, Alison J. M.
    Magee, Gareth J.
    Shemanko, Carrie S.
    Baty, David U.
    Tidman, Michael J.
    Lane, E. Birgitte
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (03) : 574 - 580