Rare Diseases Symptoms Automatic Extraction

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in COL7A1 encoding collagen VII (C7), which is a major component of anchoring fibrils. DEB includes dominant DEB (DDEB), and recessive DEB (RDEB)(1) . It has been reported that DEB can be developed by exon-skipping mutations in the COL7A1 encoding collagenous domains. This article is protected by copyright. All rights reserved.