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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ASS1

Definition : 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).

Entry Terms : "Argininosuccinate Synthetase (ASS) Deficiency Gene Mutation Detection Reagents" , "Classic Citrullinemia Gene Mutation Detection Reagents" , "Neonatal Citrullinemia Gene Mutation Detection Reagents" , "Argininosuccinic Acid Synthetase Deficiency Gene Mutation Detection Reagents" , "Citrullinemia Type I (CTLN1) Gene Mutation Detection Reagents" , "Urea Cycle Disorders Gene Mutation Detection Reagents" , "ASS Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ASS"

UMDC code : 24302

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