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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a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.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...

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PMID: 22058051
DOI: 10.1002/humu.21651

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