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
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa
β Scribed by Mellerio; Salas-Alanis; Talamantes; Horn; Tidman; Ashton; Eady; Mcgrath
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 946 KB
- Volume
- 139
- Category
- Article
- ISSN
- 0007-0963
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Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). In this study, we assessed the molecular basis of recessive DEB in five affected individuals from two Mexican families. Both fathers of the affected children were first cousins. Genomic DNA was extr
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
We report monozygous triplets affected with dystrophic epidermolysis bullosa (DEB). The female triplets were delivered by Caesarean section and skin fragility of each child, which was partly induced by trauma, was apparent from the third to fourth day of life. Clinically, the triplets were equally a
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