Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL9A1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL9A1

Definition : Molecular assay reagents intended to identify mutations in the collagen, type IX, alpha 2 (COL9A1) gene, located at chromosome 6q12-q14, which encodes for one of three chains of type IX collagen, the structural component of hyaline cartilage and vitreous of the eye. Mutations at this locus have been identified in patients with multiple epiphyseal dysplasia.

Entry Terms : "COL9A1-Related Multiple Epiphyseal Dysplasia Gene Mutation Detection Reagents" , "Multiple Epiphyseal Dysplasia (MED) Gene Mutation Detection Reagents" , "COL9A1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COL9A1"

UMDC code : 24366

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