Clinico-pathological and molecular characterization of autosomal recessive epidermolysis bullosa simplex due to EXPH5 (exophilin-5) mutations

被引:0
|
作者
Rashidghamat, E. [1 ]
Mellerio, J. [1 ]
Martinez, A. [2 ]
McGrath, J. [1 ]
机构
[1] St Johns Inst Dermatol, London, England
[2] Great Ormond St Hosp Sick Children, London, England
关键词
D O I
10.1016/j.jid.2016.06.037
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
020
引用
收藏
页码:S164 / S164
页数:1
相关论文
共 22 条
  • [21] Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5
    Kumagai, Y.
    Umegaki-Arao, N.
    Sasaki, T.
    Nakamura, Y.
    Takahashi, H.
    Ashida, A.
    Tsunemi, Y.
    Kawashima, M.
    Shimizu, A.
    Ishiko, A.
    Nakamura, K.
    Tsuchihashi, H.
    Amagai, M.
    Kubo, A.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 (05) : e241 - e243
  • [22] Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes
    Chamcheu, J. C.
    Virtanen, M.
    Navsaria, H.
    Bowden, P. E.
    Vahlquist, A.
    Torma, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (05) : 980 - 989