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
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
β Scribed by A.M.G. Pasmooij; G. Van Der Steege; H.H. Pas; J.H.sillevis Smitt; A.M. Nijenhuis; J. Zuiderveen; M.F. Jonkman
- Book ID
- 108667615
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 281 KB
- Volume
- 151
- Category
- Article
- ISSN
- 0007-0963
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Significant progress has recently been made in understanding the molecular basis of heritable skin diseases, such as epidermolysis bullosa, a group of mechano-bullous genodermatoses. In particular, the dystrophic forms of epidermolysis bullosa have been shown to result from distinct mutations in the
## Communicated by Darwin J. Prockop We have previously reported linkage of a large Finnish family with the generalized (Kobner) type of epidermolysis bullosa simplex to chromosome 12q in the region containing the type I1 keratin gene cluster (Ryynanen et al., Am J Human Genet 49: [978][979][980][