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Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa

✍ Scribed by Hiroshi KOGA; Takahiro HAMADA; Norito ISHII; Shunpei FUKUDA; Sachiko SAKAGUCHI; Hajime NAKANO; Katuto TAMAI; Daisuke SAWAMURA; Takashi HASHIMOTO


Book ID
108577900
Publisher
John Wiley and Sons
Year
2010
Tongue
French
Weight
301 KB
Volume
38
Category
Article
ISSN
0385-2407

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The international dystrophic epidermolys
✍ 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

Molecular basis of dystrophic epidermoly
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Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level