IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, H19
Definition : Molecular assay reagents intended to identify mutations in the H19 gene (imprinted maternally expressed untranslated mRNA), located at chromosome 11p15.5, which putatively functions as a tumor suppressor. Mutations at this locus have been identified in patients with Beckwith-Wiedemann syndrome (BWS); they are also associated with Silver-Russell syndrome.
Entry Terms : "Wiedemann-Beckwith Syndrome Gene Mutation Detection Reagents" , "Beckwith-Wiedemann Syndrome Gene Mutation Detection Reagents" , "H19 Gene Mutation Detection Reagents"
UMDC code : 24454