IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, IRF6
Definition : Molecular assay reagents intended to identify mutations in the interferon regulatory factor 6 (IRF6) gene, located at chromosome 1q32.3-q41, which encodes for a transcription factor of the interferon regulatory factor (IRF) family. Mutations at this locus have been identified in patients with Van der Woude's syndrome (VWS) and popliteal pterygium syndrome (PPS), also known as lip-pit syndrome.
Entry Terms : "Popliteal Pterygium Syndrome (PPS) Gene Mutation Detection Reagents" , "Van der Woude Syndrome (WVS) Gene Mutation Detection Reagents" , "IRF6 Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, IRF6"
UMDC code : 24576