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  • Molecular assay reagents intended to identify mutations in the carbamoyl-phosphate synthetase 1, mitochondrial (CPS1) gene, located at chromosome 2q35, which encodes for carbamoyl-phosphate synthetase 1, a rate-limiting enzyme in the hepatic urea cycle that plays a role in removing ammonia from the cell. Mutations at this locus have been identified in patients with infantile early-onset carbamoyl-phosphate synthetase I (CPS1) deficiency.
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