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
Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa
✍ Scribed by M. Massé; P. B. Cserhalmi-Friedman; V. Falanga; J. T. Celebi; A. Martinez-Mir; A. M. Christiano
- Book ID
- 108693349
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 248 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0307-6938
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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
## Background: Dystrophic epidermolysis bullosa (deb) is a bullous skin disease caused by mutations in the type vii collagen gene (col7a1). ## Objective: To elucidate the mutations shown by two patients with deb and understand the clinical phenotypes that they displayed. ## Methods: We have cha
## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).