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Reporting COL7A1 gene mutations in five Iranian families with Dystrophic Epidermolysis Bollusa
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  • Maryam Taghdiri,
  • Sirous Naeimi,
  • Majid Fardaei,
  • Mohammad Bagher Tabei
Maryam Taghdiri
Islamic Azad University Kazerun Branch
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Sirous Naeimi
Islamic Azad University Kazerun Branch
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Majid Fardaei
Shiraz University of Medical Sciences
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Mohammad Bagher Tabei
Shiraz University of Medical Sciences
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Abstract

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