IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TBX5
Definition : Molecular assay reagents intended to identify mutations in the T-box 5 (TBX5) gene, located at chromosome 12q24.1, which encodes for a protein that is involvd in the formation of tissues and organs during embryonic development. The T-box proteins function as transcription factors. This inherited genetic mutation has been identified in patients with Holt-Oram syndrome.
Entry Terms : "Hand and Heart Syndrome Gene Mutation Reagents" , "Heart and Hand Syndrome Gene Mutation Reagents" , "Holt-Oram Syndrome (HOS) Gene Mutation Reagents" , "TBX5 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TBX5"
UMDC code : 24984