Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa
β 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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π SIMILAR VOLUMES
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
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