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دانلود رایگان مقاله انگلیسی.pdf

11233-English-IranArze.pdf

🔗 Source: iranarze.ir

📊 Size: 1.57 MB

👤 Author: Shinkuma

⬇️ Downloads: 291

Summary

Dystrophic epidermolysis bullosa (DEB) is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen, leading to subepidermal blistering and mucocutaneous fragility. The disease is classified into 14 subtypes, including autosomal dominant and autosomal recessive forms, and is characterized by clinical features such as intractable ulcers, extensive scarring, malnutrition, and malignancy. Type VII collagen is a major component of the anchoring fibril, providing stable dermal-epidermal adhesion, and its deficiency or dysfunction leads to disease complications. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy, and new therapeutic strategies, including gene therapy, are being developed to treat DEB.

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Description

Dystrophic epidermolysis bullosa (DEB) is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen, leading to...

Technical Information

File Format: PDF
File Size: 1.57 MB
Pages: 10
Language: EN
Author: Shinkuma
Total Downloads: 291
Last Updated: 2 weeks ago

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