IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MATN3
Definition : Molecular assay reagents intended to identify mutations in the matrilin 3 (MATN3) gene, located at chromosome 2p24-p23, which encodes for matrilin-3 protein found in cartilage extracellular matrix. Mutations at this locus have been identified in patients with multiple epiphyseal dysplasias.
Entry Terms : "Spondyloepimetaphyseal Dysplasia Gene Mutation Reagent" , "Multiple Epiphyseal Dysplasia (MED) Gene Mutation Reagents" , "MATN3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MATN3"
UMDC code : 24600