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Expanding the COL7A1 Mutation Database: Novel and Recurrent Mutations and Unusual Genotype – Phenotype Constellations in 41 Patients with Dystrophic Epidermolysis Bullosa

✍ Scribed by Kern, Johannes S; Kohlhase, Jürgen; Bruckner-Tuderman, Leena; Has, Cristina


Book ID
110049296
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
140 KB
Volume
126
Category
Article
ISSN
0022-202X

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The international dystrophic epidermolys
✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 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