The COL7A1 mutation database
K Wertheim‐Tysarowska… - Human …, 2012 - Wiley Online Library
K Wertheim‐Tysarowska, A Sobczyńska‐Tomaszewska, C Kowalewski, M Skroński…
Human mutation, 2012•Wiley Online LibraryAbstract 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. col7a1‐
database. info), which contains more than 730 reported and unpublished sequence variants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 …
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. col7a1‐
database. info), which contains more than 730 reported and unpublished sequence variants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 …
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freely accessible COL7A1 specific database (http://www.col7a1‐database.info), which contains more than 730 reported and unpublished sequence variants of the gene.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. Hum Mutat 33:327–331, 2012. © 2011 Wiley Periodicals, Inc.
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