COL6A1
Deellabo: | PGD DNA |
Gen (Gen Code): | COL6A1 |
Aliases Gen: | OPLL; COL6A1 |
Gen ID (NCBI): | 1291 |
OMIM Gen ID: | 120220 |
Chromosomale locatie: | 21q22.3 |
Genetische aandoening / Analyse: | Ziekte van Bethlem, Bethlem myopathie |
OMIM aandoening ID: | 158810 |
Overerving: | AD |
Aliases aandoening: | BETHLEM MYOPATHY MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES MUSCULAR DYSTROPHY, BENIGN CONGENITAL |