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5. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function. Díez-Fernández C; Hu L; Cervera J; Häberle J; Rubio V Mol Genet Metab; 2014 Jun; 112(2):123-32. PubMed ID: 24813853 [TBL] [Abstract][Full Text] [Related]
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