IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PMM2
Definition : Molecular assay reagents intended to identify mutations in the phosphomannomutase 2 (PMM2) gene, located at chromosome 16p13.2, which encodes for phosphomannomutase 2, an enzyme necessary for the synthesis of GDP-mannose. Mutations at this locus have been identified in patients with a congenital disorder of glycosylation type 1A caused by a phosphomannomutase deficiency.
Entry Terms : "Carbohydrate-Deficient Glycoprotein Syndrome, Type 1 Gene Mutation Reagents" , "Congenital Disorder of Glycosylation Type 1A Gene Mutation Reagents" , "PMM2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PMM2"
UMDC code : 24670