Reagents, Molecular Assay, Gene Anomaly, Mutation, COL1A1
Definition : Molecular assay reagents intended to identify mutations in the collagen, type I, alpha 1 (COL1A1) gene, located at chromosome 17q21.3-q22.1, which provides instructions to make type I collagen, pro-alpha 1 (I) chain. Mutations at this locus have been identified in patients with diseases that include osteogenesis imperfecta (types I to IV) and Ehlers-Danos syndrome.
Entry Terms : "Ehlers-Danlos Syndrome (EDS, Types I and VII) Gene Mutation Detection Reagents" , "Osteogenesis Imperfecta (Types I to IV) Gene Mutation Detection Reagents" , "COL1A1 Gene Mutation Detection Reagents"
UMDC code : 24356