Article
The COL7A1 mutation database.
Human mutation - 1 Feb 2012
Wertheim-Tysarowska Katarzyna, Sobczyńska-Tomaszewska Agnieszka, Kowalewski Cezary, Skroński Michał, Swięćkowski Grzegorz, Kutkowska-Kaźmierczak Anna, Woźniak Katarzyna, Bal Jerzy
Abstract excerpt
Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene. Molecular defects are reported according to HGVS recommendation. The...
Topics
- Collagen Type VII
- Computational Biology
- Data Mining
- Databases, Genetic
- Epidermolysis Bullosa Dystrophica
- Humans
- Internet
- Mutation
- Software