Article
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
The Journal of investigative dermatology - 1 Mar 2017
Vahidnezhad Hassan, Youssefian Leila, Zeinali Sirous, Saeidian Amir Hossein, Sotoudeh Soheila, Mozafari Nikoo, Abiri Maryam, Kajbafzadeh Abdol-Mohammad, Barzegar Mohammadreza, Ertel Adam, Fortina Paolo, Uitto Jouni
Abstract excerpt
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients...
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