The aim of this COL7A1 GENE MUTATIONS DATABASE is to collect mutations related to Epidermolysis Bullosa Dystrophica (EBD) and their clinical information in order to deepen our knowledge of EBD. Both original and extracted data from published papers are accumulated in this database.

COL7A1 GENE MUTATIONS DATABASE addresses professionals and non-professionals who are dealing with EBD disease on a clinical, diagnostic, research level. The information provided may be of special value for EB specialists if clinical consequences of a newly identified mutation need to be interpreted.

We invite everyone to register and search the information available. We strongly encourage the users to submit new clinical and genotype information, thereby contributing to develop a valuable tool which will allow to understand better the molecular and clinical details of EBD disease

Graphic view of mutation