The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

Abstract

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype-phenotype correlation rules have emerged, many exceptions… (More)
DOI: 10.1002/humu.21551

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@article{Akker2011TheID, title={The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.}, author={Peter C. van den Akker and Marcel F. Jonkman and Trebor Rengaw and L Bruckner-Tuderman and Cristina Has and Johann W. Bauer and Alfred Klausegger and G. M. Zambruno and Daniele Castiglia and Jemima E Mellerio and John McGrath and Anthonie J. van Essen and Robert M. W. Hofstra and Morris A. Swertz}, journal={Human mutation}, year={2011}, volume={32 10}, pages={1100-7} }