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Hum Mutat. 2012 Feb;33(2):327-31. doi: 10.1002/humu.21651. Epub 2011 Dec 20.

The COL7A1 mutation database.

Author information

1
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. katarzyna.wertheim@imid.med.pl

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curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.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

PMID:
22058051
DOI:
10.1002/humu.21651
[Indexed for MEDLINE]

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