4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

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4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

Four previously unknown disease-causing mutations in the COL7A1 gene are identified in a case report describing the clinical features of five Southeast Asian patients with self-improving dystrophic epidermolysis bullosa (DEB).  The five cases — the first reported among patients with Southeast Asian ethnicities — suggest that early screening for collagen type VII in suspected DEB could indicate a favorable prognosis, scientists said. The report, “Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization…

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