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Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

✍ Scribed by Jeřábková, Barbora; Kopečková, Lenka; Bučková, Hana; Veselý, Karel; Valíčková, Jana; Fajkusová, Lenka


Book ID
119293616
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
414 KB
Volume
59
Category
Article
ISSN
0923-1811

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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