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The COL7A1 mutation database

✍ Scribed by Katarzyna Wertheim-Tysarowska; Agnieszka Sobczyńska-Tomaszewska; Cezary Kowalewski; Michał Skroński; Grzegorz Święćkowski; Anna Kutkowska-Kaźmierczak; Katarzyna Woźniak; Jerzy Bal

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
208 KB
Volume
33
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

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a curated, freely accessible COL7A1specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.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.

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