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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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Peer review status:UNDER REVIEW

02 Apr 2020Submitted to Clinical Case Reports
07 Apr 2020Assigned to Editor
07 Apr 2020Submission Checks Completed
16 Apr 2020Reviewer(s) Assigned
05 May 2020Review(s) Completed, Editorial Evaluation Pending

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