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

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

Definition : Molecular assay reagents intended to identify mutations in the cartilage oligomeric matrix protein (COMP) gene, located at chromosome 19p13.1, which encodes for an noncollagenous extracellular matrix (ECM) protein. Mutations at this locus have been identified in patients with childhood early-onset multiple epiphyseal dysplasia (MED) and have also been associated with pseudoachondroplasia (PSACH).

Entry Terms : "Pseudoachondroplastic Dysplasia Gene Mutation Detection Reagents" , "Pseudoachondroplasia (PSACH) Gene Mutation Detection Reagents" , "Multiple Epiphyseal Dysplasia (MED) Gene Mutation Detection Reagents" , "COMP Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COMP"

UMDC code : 24369

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