Article
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Human mutation - 1 Oct 2011
van den Akker Peter C, Jonkman Marcel F, Rengaw Trebor, Bruckner-Tuderman Leena, Has Cristina, Bauer Johann W, Klausegger Alfred, Zambruno Giovanna, Castiglia Daniele, Mellerio Jemima E, McGrath John A, van Essen Anthonie J, Hofstra Robert M W, Swertz Morris A
Abstract excerpt
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 to these rules exist, compromising disease diagnosing and...
Topics
- Collagen Type VII
- Databases, Nucleic Acid
- Epidermolysis Bullosa Dystrophica
- Genetic Association Studies
- Genotype
- Humans
- Internet
- Mutation
- Phenotype