Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province
Abstract:Background: Dystrophic Epidermolysis bullosa (DEB) is one of the EB types caused by a mutation in the COL7A1 gene, which encodes collagen type 7 and is the main component of anchoring fibrils. Objectives: This study aimed to investigate COL7A1 gene mutations in five families of patients. Khuzestan is suffering from EB. Methods: After extracting genomic DNA from peripheral blood samples of probands, COL7A1 gene screening was performed using polymerase chain reaction and direct sequencing of exons 36-37 and thei… Show more
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