Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.

Abstract

Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal-epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a… (More)

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Cite this paper

@article{Betts1999PretibialDE, title={Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.}, author={Caroline M. Betts and Patrizia Posteraro and A. M. Costa and Claudio Varotti and M. Schubert and L Bruckner-Tuderman and Daniele Castiglia}, journal={The British journal of dermatology}, year={1999}, volume={141 5}, pages={833-9} }