CPS1
Deellabo: | PGD DNA |
Gen (Gen Code): | CPS1 |
Aliases Gen: | CPSASE1 |
Gen ID (NCBI): | 1373 |
OMIM Gen ID: | 608307 |
Chromosomale locatie: | 2q35 |
Genetische aandoening / Analyse: | Carbamoyl phosphate synthase I deficientie |
OMIM aandoening ID: | 237300 |
Aliases aandoening: | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CPS I DEFICIENCY |