Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex

Satoko Minakawa; Hajime Nakano; Koji Nakajima; Yasushi Matsuzaki; Noriko Takiyoshi; Eijiro Akasaka; Daiki Rokunohe; Daisuke Sawamura

doi:10.1016/j.jdermsci.2013.08.001

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex

J Dermatol Sci. 2013 Dec;72(3):330-2. doi: 10.1016/j.jdermsci.2013.08.001. Epub 2013 Aug 12.

Authors

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

Affiliation

¹ Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.

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

No abstract available

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.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
DNA Mutational Analysis
Epidermolysis Bullosa Simplex / genetics*
Female
Humans
Japan
Keratin-14 / genetics*
Keratin-5 / genetics*
Male

Substances

KRT14 protein, human
KRT5 protein, human
Keratin-14
Keratin-5