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
  • [1] Expanding keratin 5 and 14 mutation databases in autosomal recessive and autosomal dominant epidermolysis bullosa simplex
    Saeidian, A. H.
    Vahidnezhad, H.
    Youssefian, L.
    Barzegar, M. R.
    Zeinali, S.
    Sotoude, S.
    Uitto, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (05) : S69 - S69
  • [2] A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue
    Baek, J. O.
    Lee, H. Y.
    Oh, S. W.
    Lee, J. S.
    Kim, S. C.
    Lee, J. R.
    Roh, J. Y.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (04) : 880 - 882
  • [3] Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex - Increased severity of disease in a homozygote
    Hu, ZL
    Smith, L
    Martins, S
    Bonifas, JM
    Chen, H
    Epstein, EH
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (03) : 360 - 364
  • [4] Mutation analyses of keratin 5 and keratin 14 in Korean patients with epidermolysis bullosa simplex
    Kang, T.
    Lee, J.
    Kim, S.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 : S112 - S112
  • [5] AN EPIDERMOLYSIS-BULLOSA SIMPLEX PATIENT WITH A KERATIN-5 HOMOZYGOUS DEFECT
    STEPHENS, K
    ZLOTOGORSKI, A
    SMITH, L
    EHRLICH, P
    WIJSMAN, RL
    SYBERT, VP
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 102 (04) : 609 - 609
  • [6] Splice site mutation in the gene for keratin 14 in autosomal recessive epidermolysis bullosa simplex with K14 'knockout'.
    Jonkman, MF
    Heeres, K
    Pas, HH
    Burton, M
    Scheffer, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 250 - 250
  • [7] Mutation analysis of keratin 5 and keratin 14 genes in patients with epidermolysis bullosa simplex
    Bóna, A
    Csikós, M
    Sajó, R
    Horváth, A
    Kárpáti, S
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (02)
  • [8] AN EPIDERMOLYSIS-BULLOSA-SIMPLEX PATIENT WITH A KERATIN-5 HOMOZYGOUS DEFECT
    STEPHENS, K
    ZLOTOGORSKI, A
    SMITH, L
    EHRLICH, P
    LE, R
    WIJSMAN, E
    SYBERT, VP
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (06) : 853 - 853
  • [9] A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (vol 162, pg 880, 2010)
    Baek
    Roh, Joo-Young
    Kim, Soo Chan
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (06) : 1416 - 1416
  • [10] A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex
    Sasaki, Y
    Shimizu, H
    Akiyama, M
    Hiraoka, Y
    Takizawa, Y
    Yamada, S
    Morishima, Y
    Yamanishi, K
    Aiso, S
    Nishikawa, T
    BRITISH JOURNAL OF DERMATOLOGY, 1999, 141 (04) : 747 - 748
12345