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- Title
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome.
- Authors
Has, Cristina; Kiritsi, Dimitra; Mellerio, Jemima E; Franzke, Claus-Werner; Wedgeworth, Emma; Tantcheva-Poor, Iliana; Kernland-Lang, Kristin; Itin, Peter; Simpson, Michael A; Dopping-Hepenstal, Patricia J; Fujimoto, Wataru; McGrath, John A; Bruckner-Tuderman, Leena
- Abstract
The article focuses on a study that discusses hereditary epidermolysis bullosa (EB), inherited connective tissue disease, causing blisters in the skin. Topics discussed include EB caused by mutation, EB classified into four different types including EB simplex, dystrophic EB, junctional EB and Kindler syndrome and distinct phenotypes causes loss of dermatoglyphs, skin blistering and progressive skin atrophy. It also discusses about missense mutation p.R1303Q in type XVII Collagen.
- Subjects
EPIDERMOLYSIS bullosa; BLISTERS; GENETIC mutation; CONNECTIVE tissues; MISSENSE mutation; COLLAGEN
- Publication
Journal of Investigative Dermatology, 2014, Vol 134, Issue 3, p845
- ISSN
0022-202X
- Publication type
Article
- DOI
10.1038/jid.2013.367