Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant-Reference-Cited by-同舟云学术

Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant

Published:2013-06-08 Issue:1 Volume:39 Page:80-81
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Jantke M.¹,Has C.²,Haenssle H. A.¹,Schön M. P.¹,Emmert S.¹

Affiliation:

1. Department of Dermatology, Venereology and Allergology; Georg-August-University Goettingen; Rober-Koch-Str. 40 D 37075 Goettingen Germany

2. Department of Dermatology; Albert-Ludwig-University Freiburg; Freiburg Germany

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12175/fullpdf

Reference5 articles.

1. One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex;Tang;Clin Exp Dermatol,2009

2. A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote;Trufant;J Cutan Pathol,2010

3. Diseases of epidermal keratins and their linker proteins;Uitto;Exp Cell Res,2007

4. Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex - increased severity of disease in a homozygote;Hu;J Invest Dermatol,1997

5. A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist;Kowalewski;Int J Mol Med,2007

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5;Experimental Dermatology;2020-09-22

2. NovelKRT14mutation causing epidermolysis bullosa simplex with variable phenotype;Experimental Dermatology;2014-09