title: The COL7A1 mutation database.
abstract: 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a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.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 clinical description module is provided with an advanced search tool together with a CSV (comm. separated values) data format download option. This compilation of COL7A1 data and nomenclature is aimed at assisting molecular and clinical geneticists to enhance the collaboration between researchers worldwide.
authors: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. katarzyna.wertheim@imid.med.pl
authors: Katarzyna
authors: K
authors: Wertheim-Tysarowska
authors: Agnieszka
authors: A
authors: Sobczyńska-Tomaszewska
authors: Cezary
authors: C
authors: Kowalewski
authors: Michał
authors: M
authors: Skroński
authors: Grzegorz
authors: G
authors: Swięćkowski
authors: Anna
authors: A
authors: Kutkowska-Kaźmierczak
authors: Katarzyna
authors: K
authors: Woźniak
authors: Jerzy
authors: J
authors: Bal
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D019295:Computational Biology / Q000379:methods; D057225:Data Mining / Q000379:methods; D030541:Databases, Genetic; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation; D012984:Software
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII