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  • Molecular assay reagents intended to identify mutations in the argininosuccinate synthetase 1 (ASS1) gene, located at chromosome 9q34, which encodes for the enzyme argininosuccinate that is responsible for the third step in the urea cycle. The urea cycle transforms excess nitrogen into urea, which is excreted. Mutations at this locus have been identified in patients with early- and late-onset citrullinemia type I (CTLN1).
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