Reagents, Molecular Assay, Gene Anomaly, Mutation, COL2A1
Definition : Molecular assay reagents intended to identify mutations in the collagen, type 2, alpha 1 (COL2A1) gene, located at chromosome 12q13.11-q13.2, which provides instructions to make collagen type II alpha 1 chain found in cartilage and vitreous humor. Mutations at this locus have been identified in patients with of diseases that include osteogenesis imperfecta (types I to IV) and Ehlers-Danos syndrome.
Entry Terms : "Kniest Spondyloepiphyseal Dysplasia Gene Mutation Detection Reagents" , "Stickler Syndrome Type I Gene Mutation Detection Reagents" , "COL2A1 Gene Mutation Detection Reagents"
UMDC code : 24360