IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, FBN1
Definition : Molecular assay reagents intended to identify mutations in the fibrillin 1 (FBN1) gene, located at chromosome 15q21.1, which encodes for fibrillin, a structural component of 10-12 mm extracellular calcium-binding microfibrils. Fibrillin-1 contains micro bundles that are involved in the maintenance of elastic fibers and in anchoring epithelial cells to the interstitial matrix. Mutations at this locus have been identified in patients with Marfan syndrome and Shprintzen-Goldberg syndrome.
Entry Terms : "Shprintzen-Goldberg Syndrome Gene Mutation Detection Reagents" , "Marfan Syndrome Gene Mutation Detection Reagents" , "FBN1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, FBN1"
UMDC code : 24426