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
  • [1] Mutation analysis of keratin 5 and keratin 14 genes in patients with epidermolysis bullosa simplex
    Bóna, A
    Csikós, M
    Sajó, R
    Horváth, A
    Kárpáti, S
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (02)
  • [2] New keratin K5 and K14 mutations in 7 German families with epidermolysis bullosa simplex.
    Müller, FB
    Küster, W
    Bruckner-Tuderman, L
    Korge, BP
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 511 - 511
  • [3] Novel keratin 5 mutation in a family with epidermolysis bullosa simplex
    Gao, Jiajia
    Wang, Xuebin
    Zheng, Fang
    Dong, Sufang
    Qiu, Xueping
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2015, 10 (06) : 2432 - 2436
  • [4] A novel mutation in the L12 domain of keratin 5 in the weber-cockayne variant of epidermolysis bullosa simplex.
    Galligan, P
    Rothnagel, JA
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 616 - 616
  • [5] 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
    Yuan, H.
    Liu, F.
    Xiao, B.
    He, Y.
    Liang, Y.
    Liu, J.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2008, 22 (12)
  • [6] EPIDERMOLYSIS-BULLOSA SIMPLEX - LINKAGE TO KERATIN GENES AND IDENTIFICATION OF A KERATIN-14 MUTATION IN ONE FAMILY
    BONIFAS, JM
    ROTHMAN, AL
    EPSTEIN, EH
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 98 (03) : 397 - 397
  • [7] A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family
    Wu, J. W.
    Xiao, S. X.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (04) : 484 - 486
  • [8] Mutation analyses of keratin 5 and keratin 14 in Korean patients with epidermolysis bullosa simplex
    Kang, T.
    Lee, J.
    Kim, S.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 : S112 - S112
  • [9] Analysis of the clinical and cellular phenotype resulting from ablation of keratin 14 in recessive epidermolysis bullosa simplex.
    Jonkman, MF
    Smith, FJD
    McLean, WHI
    Scheffer, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) : 3 - 3
  • [10] EPIDERMOLYSIS-BULLOSA SIMPLEX - EVIDENCE IN 2 FAMILIES FOR KERATIN GENE ABNORMALITIES
    BONIFAS, JM
    ROTHMAN, AL
    EPSTEIN, EH
    SCIENCE, 1991, 254 (5035) : 1202 - 1205