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 recessieve vorm |
OMIM aandoening ID: | 226600 |
Overerving: | AR |
Aliases aandoening: | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED |