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A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa

✍ Scribed by Galehdari, Hamid; Mohammadian, Gholamreza; Azmoon, Somayeh; Salehi, Bahaoddin; Pedram, Mohammad

Book ID
123560616
Publisher
American Society for Investigative Pathology
Year
2010
Tongue
English
Weight
258 KB
Volume
12
Category
Article
ISSN
1525-1578

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The international dystrophic epidermolys
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations
✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 353 KB

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype