Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, POMGnT1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, POMGnT1

Definition : Molecular assay reagents intended to identify mutations in the protein O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) gene, located at chromosome 1p34.1, which encodes for a protein involved in o-mannosyl glycan synthesis. Mutations at this locus have been identified in patients with muscle-eye-brain muscular dystrophy (MEB), ocular abnormalities, and brain malformation.

Entry Terms : "Congenital Muscular Dystrophy Muscle-Eye-Brain (MEB) Gene Mutation Reagents" , "Muscular Dystrophy, Muscle-Eye-Brain Disease Type Gene Mutation Reagents" , "Congenital Muscular Dystrophy Gene Mutation Reagents" , "POMGnT1 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, POMGnT1"

UMDC code : 24672

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