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Mohammad Bagher Tabei
Public Documents
1
Reporting COL7A1 gene mutations in five Iranian families with Dystrophic Epidermolysi...
Maryam Taghdiri
and 3 more
April 07, 2020
Dystrophic epidermolysis bullosa (DEB) is a inherited blistering disorder, characterized by affected dermis-epidermis conjunction. COL7A1 encodes collagen VII protein, which is responsible for dermis-epidermis conjunction. We report several mutations of COL7A1 in Iranian families, which result in DEB and expands the mutation spectrum of COL7A1 mutations for further molecular studies