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  • Molecular assay reagents intended to identify mutations in the alanine-glyoxylate aminotransferase (AGXT) gene, located at chromosome 2q36-q37, which encodes for a liver enzyme called alanine-glyoxylate aminotransferase found inside the peroxisomes. Mutations at this locus have been identified in most patients with primary hyperoxaluria type 1 (PH1), an early-onset disease with recurrent nephrolithiasis, nephrocalcinosis, and renal calculi.
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