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The clinical spectrum of dystrophic epidermolysis bullosa

✍ Scribed by H.M. Horn; M.J. Tidman


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
165 KB
Volume
146
Category
Article
ISSN
0007-0963

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πŸ“œ SIMILAR VOLUMES


The clinical spectrum of epidermolysis b
✍ H.M. Horn; M.J. Tidman πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 208 KB

## Abstract As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS-DM), Weber–Cockayne (EBS-WC)

The international dystrophic epidermolys
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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

THREE-DIMENSIONAL DISTRIBUTION OF BASEME
✍ ONETTI MUDA, ANDREA; PARADISI, MAURO; ANGELO, CORRADO; PUDDU, PIETRO; FARAGGIANA πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 540 KB

Absent or defective collagen VII at the dermo-epidermal junction is the hallmark of dystrophic recessive epidermolysis bullosa. Little is known of the alterations of other collagenous and non-collagenous components of the basement membrane; it is likely that their assembly may be disturbed by the la

Expression of collagenase and stromelysi
✍ T. Sato; K. Nomura; I. Hashimoto πŸ“‚ Article πŸ“… 1995 πŸ› Springer-Verlag 🌐 English βš– 970 KB

Collagenase and stromelysin expression in recessive dystrophic epidermolysis bullosa (RDEB) was studied at both the protein and the gene expression levels in fibroblast cultures. The amount of enzyme protein in the culture medium, as determined using a specific enzyme assay, showed a 9.7-fold increa