COL7A1

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

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