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

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

Definition : Molecular assay reagents intended to identify mutations in the galactose-1-phosphate uridylyltransferase (GALT) gene, located at chromosome 9p13, which encodes for the manufacture of the galactose-1-phosphate uridylyltransferase enzyme that converts modified sugar galactose-1-phosphate to an active form that can be further used by the body. Mutations at this locus have been identified in patients with galactosemia.

Entry Terms : "Premature Ovarian Failure Gene Mutation Detection Reagents" , "Galactose-1-Phosphate Uridyltransferase Deficiency Gene Mutation Detection Reagents" , "Classic Galactosemia Gene Mutation Detection Reagents" , "Galactosemia Gene Mutation Detection Reagents" , "GALT Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GALT"

UMDC code : 24437

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