COL5A1
Deellabo: | PGD DNA |
Gen (Gen Code): | COL5A1 |
Aliases Gen: | COL5A1 |
Gen ID (NCBI): | 1289 |
OMIM Gen ID: | 120215 |
Chromosomale locatie: | 9q34.2-q34.3 |
Genetische aandoening / Analyse: | Ehlers-Danlos syndrome type I (EDS-I) |
OMIM aandoening ID: | 130000 |
Overerving: | AD |
Aliases aandoening: | EHLERS-DANLOS SYNDROME, TYPE I EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE EDS I; EDS1 EHLERS-DANLOS SYNDROME, GRAVIS TYPE |