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

[dystrophic epidermolysis bullosa]

Dystrophic epidermolysis bullosa (DEB ) is caused by mutations in COL 7 A 1 encoding collagen VII (C 7 ), 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 COL 7 A 1 encoding collagenous domains . This article is protected by copyright . All rights reserved .