Disease - Epidermolysis bullosa dystrophica, Bart type
- DefinitionAn autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.
- AcronymB-DEB
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Browse 1 entry- Collagen alpha-1(VII) chain · Gene: COL7A1 · Homo sapiens (Human) · 2944 amino acids · Evidence at protein level · Annotation score: 5/5