A novel keratin 5 splice site mutation in a Filipino family resulting in epidermolysis bullosa simplex associated with ankyloblepharon

被引：0
|
作者：
Halim, I [1 ]
Yan, W. F. [2 ,3 ]
King-Ismael, D. [1 ]
Tran, K. [2 ,4 ]
Melbourne, W. [2 ,4 ]
Figueira, E. C. [2 ]
Chow, C. W. [5 ]
Lloyd, L. [6 ]
Murrell, D. F. [2 ,3 ]
机构：
[1] Jose R Reyes Mem Med Ctr, Dept Dermatol, Manila, Philippines
[2] Univ NSW, Sydney, NSW, Australia
[3] St George Hosp, Dept Dermatol, Sydney, NSW, Australia
[4] St George Hosp, SEALS, Dept Anat Pathol, Sydney, NSW, Australia
[5] Royal Childrens Hosp, Dept Anat Pathol, Melbourne, Vic, Australia
[6] Royal Brisbane Hosp, Dept Chem Pathol, Brisbane, Qld, Australia
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2009年 / 129卷
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：S47 / S47
页数：1
相关论文
共 50 条
  • [41] Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland
    Takahiro Hamada
    Yuko Kawano
    Weronika Szczecinska
    Katarzyna Wozniak
    Shinichiro Yasumoto
    Cezary Kowalewski
    Takashi Hashimoto
    Archives of Dermatological Research, 2005, 296 : 577 - 579
  • [42] The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex
    Sathishkumar, Dharshini
    Orrin, Elizabeth
    Terron-Kwiatkowski, Ana
    Browne, Fiona
    Martinez, Anna E.
    Mellerio, Jemima E.
    Ogboli, Malobi
    Hoey, Susannah
    Ozoemena, Linda
    Liu, Lu
    Baty, David
    McGrath, John A.
    Moss, Celia
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (03) : 719 - 721
  • [43] Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland
    Hamada, T
    Kawano, Y
    Szczecinska, W
    Wozniak, K
    Yasumoto, S
    Kowalewski, C
    Hashimoto, T
    ARCHIVES OF DERMATOLOGICAL RESEARCH, 2005, 296 (12) : 577 - 579
  • [44] A COMMON KERATIN-5 GENE MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE
    EHRLICH, P
    SYBERT, VP
    SPENCER, A
    STEPHENS, K
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (05) : 877 - 879
  • [45] A novel autosomal partially dominant mutation in keratin 5 gene causes epidermolysis bullosa simplex variant Weber-Cockayne
    Kowalewski, C
    Hamada, T
    Wozniak, K
    Szczecinska, W
    Hashimoto, T
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (06) : A28 - A28
  • [46] Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene
    Cho, Jae-We
    Ryu, Han-Won
    Kim, Sung-Ae
    Nakano, Hajime
    Lee, Kyu-Suk
    ANNALS OF DERMATOLOGY, 2014, 26 (06) : 739 - 742
  • [47] A novel mutation (p. Lys199Asn) in KRT5 resulting in different Epidermolysis Bullosa Simplex phenotypes of a Chinese family
    Deng, Weiping
    Lai, Wei
    JOURNAL OF DERMATOLOGY, 2010, 37 : 100 - 100
  • [48] A novel mutation (p. Lys199Asn) in KRT5 resulting in different epidermolysis bullosa simplex phenotypes of a Chinese family
    Deng, Weiping
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2011, 64 (02) : AB85 - AB85
  • [49] Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: A Japanese family with epidermolysis bullosa simplex with mottled pigmentation
    Horiguchi, Y
    Sawamura, D
    Mori, R
    Nakamura, H
    Takahashi, K
    Shimizu, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (01) : 83 - 85
  • [50] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
    Nagao-Watanabe, M
    Fukao, T
    Matsui, E
    Kaneko, H
    Inoue, R
    Kawamoto, N
    Kasahara, K
    Nagai, M
    Ichiki, Y
    Kitajima, Y
    Kondo, N
    CLINICAL GENETICS, 2004, 66 (03) : 236 - 238
12345