Increased severity of autosomal dominant epidermolysis bullosa simplex in a patient homozygous for a keratin 14 mutation.

被引：0
|
作者：
Hu, ZI
Bonifas, JM
Martins, S
Chen, H
Epstein, EH
机构：
[1] UNIV CALIF SAN FRANCISCO,SAN FRANCISCO GEN HOSP,DEPT DERMATOL,SAN FRANCISCO,CA 94110
[2] UNIV FED PERNAMBUCO,RECIFE,PE,BRAZIL
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1996年 / 106卷 / 04期
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：224 / 224
页数：1
相关论文
共 50 条
  • [41] Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9
    Bchetnia, Mbarka
    Dionne Gagne, Rebecca
    Powell, Julie
    Morin, Charles
    McCuaig, Catherine
    Duperee, Audrey
    Germain, Lucie
    Tremblay, Jacques P.
    Laprise, Catherine
    CRISPR JOURNAL, 2022, 5 (04): : 586 - 597
  • [42] Novel and recurrent keratin 5 and keratin 14 mutations in 38 families with epidermolysis bullosa simplex in Australia
    Kim, E.
    Harris, A.
    Murrell, D. F.
    Su, J.
    Yan, W.
    AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2016, 57 : 30 - 31
  • [43] GENETIC-LINKAGE ANALYSIS IN A PEDIGREE WITH AUTOSOMAL DOMINANT SIMPLEX EPIDERMOLYSIS-BULLOSA
    HUMPHRIES, MM
    SHEILS, D
    YOUNG, M
    FARRAR, GJ
    HUMPHRIES, P
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 98 (03) : 397 - 397
  • [44] Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation
    Gong, Zhuoqing
    Zou, Xueke
    Xue, Ruoning
    Zhu, Xuejun
    Jiang, Xingyuan
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2023, 110 (01) : 27 - 30
  • [45] Possibility of precision medicine based on functional analysis of keratin mutation in epidermolysis bullosa simplex
    Kishibe, M.
    Matsuo, R.
    Igawa, S.
    Kubo, A.
    Ishida-Yamamoto, A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (05) : S143 - S143
  • [46] Molecular basis of epidermolysis bullosa simplex with mottled pigmentation in a large autosomal dominant pedigree
    Losi-Sasaki, JM
    Shurman, DL
    Grimwood, RS
    Tichy, EH
    Uitto, J
    Richard, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A78 - A78
  • [47] Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)
    Wen, D.
    Balacco, D. L.
    Bardhan, A.
    Harper, N.
    Walsh, D.
    Ryan, G.
    Liu, L.
    Guy, A.
    McGrath, J. A.
    Ogboli, M.
    Heagerty, A. H. M.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2022, 47 (02) : 497 - 502
  • [48] A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire
    Ford, CA
    Stanfield, AM
    Spelman, RJ
    Smits, B
    Ankersmidt-Udy, AEL
    Cottier, K
    Holloway, H
    Walden, A
    Al-Wahb, M
    Bohm, E
    Snell, RG
    Sutherland, GT
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (06) : 1170 - 1176
  • [49] 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
  • [50] 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
12345