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The COL7A1 mutation database
Author(s) -
WertheimTysarowska Katarzyna,
SobczyńskaTomaszewska Agnieszka,
Kowalewski Cezary,
Skroński Michał,
Święćkowski Grzegorz,
KutkowskaKaźmierczak Anna,
Woźniak Katarzyna,
Bal Jerzy
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21651
Subject(s) - biology , hum , genetics , mutation , gene , computational biology , art , performance art , art history
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a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.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.