GLB1
Deellabo: | PGD DNA |
Gen (Gen Code): | GLB1 |
Aliases Gen: | EBP; ELNR1; MPS4B; GLB1 |
Gen ID (NCBI): | 2720 |
OMIM Gen ID: | 611458 |
Chromosomale locatie: | 3p22.3 |
Genetische aandoening / Analyse: | GLB1 deficiëntie |
OMIM aandoening ID: | 230500 |
Overerving: | AR |
Aliases aandoening: | GM1-GANGLIOSIDOSIS, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 BETA-GALACTOSIDASE-1 DEFICIENCY GLB1 DEFICIENCY |