IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL4A3
Definition : Molecular assay reagents intended to identify mutations in the collagen, type IV, alpha 3 (COL4A3) gene, located at chromosome 2q36-q37, which encodes for a component of type IV collagen and makes the alpha III (4) chain of type IV collagen that composes a large portion of the basement membranes of the kidney, eye, cochlea, brain, and lungs. Mutations at this locus have been identified in patients with diseases that include Alport's syndrome, basement membrane nephropathy, and Goodpasture's syndrome.
Entry Terms : "Autosomal Recessive Alport Syndrome (ARAS) Gene Mutation Detection Reagents" , "Alport Syndrome Gene Mutation Detection Reagents" , "COL4A3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COL4A3"
UMDC code : 24362