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

< Terug