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Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa

✍ Scribed by Sheau-Chiou Chao; Julia Yu-Yun Lee

Book ID
117630669
Publisher
Chinese Electronic Periodical Services
Year
2007
Tongue
English
Weight
836 KB
Volume
106
Category
Article
ISSN
0929-6646

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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