Literature DB >> 23993914

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.

Satoko Minakawa1, Hajime Nakano, Koji Nakajima, Yasushi Matsuzaki, Noriko Takiyoshi, Eijiro Akasaka, Daiki Rokunohe, Daisuke Sawamura.   

Abstract

Entities:  

Keywords:  Dowling-Meara; EB; EBS; EBS localized; EBS migratory circinate; EBS other generalized; EBS with mottled pigmentation; EBS-DM; EBS-MP; EBS-gen; EBS-loc; EBS-migr; Epidermolysis; Gene analysis; Keratin 14; Keratin 5; Mutation; epidermolysis bullosa; epidermolysis bullosa simplex

Mesh：

Substances：

Year:  2013        PMID： 23993914     DOI： 10.1016/j.jdermsci.2013.08.001

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  4 in total

1.  A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.

Authors:  Hiroyuki Wakiguchi; Shunji Hasegawa; Shinji Maeba; Sasagu Kimura; Satoko Ito; Hiroshi Tateishi; Kazuhiro Ueda; Shouichi Ohga
Journal:  AJP Rep       Date:  2016-03

2.  Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

Authors:  Shuk Ching Chong; Kam Lun Hon; Fernando Scaglia; Chung Mo Chow; Yu Ming Fu; Tor Wo Chiu; Alexander K C Leung
Journal:  Case Rep Pediatr       Date:  2020-04-17

3.  Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population.

Authors:  Jia Zhang; Yu Ding; Ming Li; Zhirong Yao; Yin Zhuang
Journal:  Exp Ther Med       Date:  2019-10-25       Impact factor: 2.447

4.  A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

Authors:  Xin Jiang; Yingyu Zhu; Huihui Sun; Feng Gu
Journal:  Ann Dermatol       Date:  2020-12-30       Impact factor: 1.444
  4 in total

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