A MILD CASE OF DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA DIAGNOSED BY NEXT-GENERATION SEQUENCING

被引:0
|
作者
Nagai, Makoto [1 ]
Tominaga, Chiharu [1 ]
Yoshiko, Sakaguchi [1 ]
Nagai, Hiroshi [2 ]
Ohgo, Noriko
Nishigori, Chikako [2 ]
Yamanishi, Kiyofumi [1 ]
机构
[1] Hyogo Coll Med, Dept Dermatol, Nishinomiya, Hyogo, Japan
[2] Kobe Univ, Grad Sch Med, Dept Dermatol, Kobe, Hyogo, Japan
来源
JOURNAL OF DERMATOLOGY | 2014年 / 41卷
关键词
Epidermolysis bullosa; Type; 7; collagen; Mutation; Next-generation sequencing;
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
P-318
引用
收藏
页码:59 / 59
页数:1
相关论文
共 50 条
  • [21] Localised de novo dominant dystrophic epidermolysis bullosa
    Bursztejn, A. -C.
    Pinault, A. -L.
    Le Louarn, Y.
    Lacour, J. -P.
    Charlesworth, A.
    Meneguzzi, G.
    Truchetet, F.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2008, 135 (03): : 195 - 199
  • [22] Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa
    Christiano, A
    Cserhalmi-Friedman, P
    Garzon, M
    Guzman, E
    Martinez-Mir, A
    Anyane-Yeboa, K
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (02) : 516 - 516
  • [23] Towards a gene therapy for dominant dystrophic epidermolysis bullosa
    Allen, D.
    Kenna, P. F.
    Humphries, P.
    Farrar, G. J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S91 - S91
  • [24] Dominant pretibial dystrophic epidermolysis bullosa in an Italian family
    Vaccaro, Mario
    Guarneri, Claudio
    Guarneri, Fabrizio
    Lentini, Maria
    Cannavo, Serafinella P.
    PEDIATRIC DERMATOLOGY, 2020, 37 (06) : 1207 - 1209
  • [25] PRENATAL-DIAGNOSIS OF DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
    HAWKINS, HK
    EADY, RAJ
    LEVY, ML
    CARPENTER, RC
    HEJTMANCIK, JF
    HOLBROOK, KA
    FINE, JD
    CLINICAL RESEARCH, 1988, 36 (01): : A58 - A58
  • [26] DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH KERATOSIS PUNCTATA
    PUIG, L
    MORENO, A
    NOGUERA, X
    DEMORAGAS, JM
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1986, 15 (06) : 1289 - 1291
  • [27] Exploration of Gene Therapies for Dominant Dystrophic Epidermolysis Bullosa
    Morgan, Clare P.
    Allen, Danny
    Kenna, Paul F.
    Humphries, Pete
    Farrar, Gwyneth J.
    MOLECULAR THERAPY, 2009, 17 : S259 - S259
  • [28] IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa
    Kawasaki, Yukihiko
    Isome, Masato
    Takano, Kei
    Suyama, Kazuhide
    Imaizumi, Tomoko
    Matsuura, Hiromi
    Ichii, Kiyoko
    Hashimoto, Koichi
    Hosoya, Mitsuaki
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2008, 214 (04): : 297 - 301
  • [29] Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa
    Cserhalmi-Friedman, PB
    Garzon, MC
    Guzman, E
    Martinez-Mir, A
    Chung, WK
    Anyane-Yeboa, K
    Christiano, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (05) : 1327 - 1328
  • [30] DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA (PASINI VARIANT)
    WOOD, ML
    HARRINGTON, CI
    BRITISH JOURNAL OF DERMATOLOGY, 1986, 115 : 86 - 87