IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ELN
Definition : Molecular assay reagents intended to identify mutations in the elastin (ELN) gene, located at chromosome 17q11.23, which encodes for the protein elastin, a major component of elastic fibers that provide strength and flexibility to connective tissues. Mutations at this locus have been identified in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
Entry Terms : "Williams-Beuren Syndrome Gene Mutation Detection Reagents" , "ELN Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ELN"
UMDC code : 24398