COL7A1
Deellabo: | PGD DNA |
Gen (Gen Code): | COL7A1 |
Aliases Gen: | EBD1, EBDCT, EBR1, COL7A1 |
Gen ID (NCBI): | 1294 |
OMIM Gen ID: | 120120 |
Chromosomale locatie: | 3p21.1 |
Genetische aandoening / Analyse: | Epidermolysis bullosa dystrophica, autosomaal dominante vorm |
OMIM aandoening ID: | 131750 |
Overerving: | AD |
Aliases aandoening: | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDD |