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
  • [21] 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
  • [22] 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
  • [23] Mutation Analysis of the Entire Keratin 5 and 14 Genes in Patients With Epidermolysis Bullosa Simplex and Identification of Novel Mutations
    Schuilenga-Hut, Petra H. L.
    van der Vlies, Pieter
    Jonkman, Marcel F.
    Waanders, Esme
    Buys, Charles H. C. M.
    Scheffer, Hans
    HUMAN MUTATION, 2003, 21 (04)
  • [24] A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
    Irvine, AD
    McKenna, KE
    Bingham, A
    Nevin, NC
    Hughes, AE
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (06) : 815 - 816
  • [25] 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
  • [26] A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex
    Li, JG
    Feng, J
    Xiao, SX
    Ai, YL
    Wang, JM
    Peng, ZH
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2004, 29 (05) : 539 - 541
  • [27] A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex
    Xu, Z
    Dong, H
    Sun, X
    Zhu, X
    Yang, Y
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2004, 29 (01) : 74 - 76
  • [28] 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
  • [29] Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex
    Kang, Tae-Won
    Lee, Jeong Seon
    Kim, Song-Ee
    Oh, Se-Woong
    Kim, Soo-Chan
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2010, 57 (02) : 90 - 94
  • [30] Elevated mutant keratin 5 mRNA expression in a novel deletion mutation in Dowling-Meara epidermolysis bullosa simplex
    Kemp, MW
    Klingberg, S
    Lloyd, L
    Molloy, TJ
    Marr, P
    Wang, Y
    Murrell, GAC
    Murrell, DF
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (06) : A9 - A9
12345