Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, POMT1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, POMT1

Definition : Molecular assay reagents intended to identify mutations in the protein O-mannosyltransferase 1 (POMT1) gene, located at chromosome 9q34.1, which encodes for a protein involved in o-mannosylation, an important protein modification, that may be required for normal structure and function of alpha-dystroglycan in muscle and the brain. This genetic mutation has been identified in patients with Walker-Warburg syndrome (WWS) muscular dystrophy, and muscular dystrophy limb-girdle, type 2K.

Entry Terms : "Muscular Dystrophy Limb-Girdle, Type 2K Gene Mutation Reagents" , "Muscle-Eye-Brain (MEB) Congenital Muscular Dystrophy Gene Mutation Reagents" , "Walker-Warburg syndrome (WWS) Gene Mutation Reagents" , "Muscular Dystrophy, Muscle-Eye-Brain Disease Type Gene Mutation Reagents" , "Congenital Muscular Dystrophy Gene Mutation Reagents" , "POMT1 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, POMT1"

UMDC code : 24913

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BioVision Inc

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