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- Title
A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains.
- Authors
Satoru Shinkuma; Wataru Nishie; Jacyk, Witold K.; Ken Natsuga; Hideyuki Ujiie; Hideki Nakamura; Masashi Akiyama; Hiroshi Shimizu
- Abstract
This article discusses a study that identified keratin 5 mutation in an African family with epidermolysis bullosa simplex. Researchers identified the mutation at the boundary site between H1 and coil 1A domains of keratin 5. The patients were an eight-year-old African girl of Zulu ethnicity who presented with skin fragility since birth and a 40-year-old African man who had blisters. A description of EBS is included.
- Subjects
EPIDERMOLYSIS bullosa; KERATIN; GENETIC mutation; BLISTERS; SKIN diseases
- Publication
Acta Dermato-Venereologica, 2013, Vol 93, Issue 5, p585
- ISSN
0001-5555
- Publication type
Article
- DOI
10.2340/00015555-1538