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Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ASL

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

Definition : Molecular assay reagents intended to identify mutations in the argininosuccinate lyase (ASL) gene, located at chromosome 7cen-q11.2, which encodes for a protein which catalyzes the cleavage of argininosuccinate, which is vital in detoxifying ammonia via the urea cycle. Mutations at this locus have been identified in patients with early-onset argininosuccinic aciduria, also known as argininosuccinate lyase (ASL) deficiency.

Entry Terms : "Argininosuccinate Lyase (ASL) Deficiency Gene Mutation Detection Reagents" , "Argininosuccinic Aciduria Gene Mutation Detection Reagents" , "Urea Cycle Disorders Gene Mutation Detection Reagents" , "ASL Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ASL"

UMDC code : 24300

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