Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations
β Scribed by Takayuki Murata; Takuji Masunaga; Akira Ishiko; Hiroshi Shimizu; Takeji Nishikawa
- Book ID
- 106078450
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 203 KB
- Volume
- 295
- Category
- Article
- ISSN
- 0340-3696
No coin nor oath required. For personal study only.
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