IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RECQL4
Definition : Molecular assay reagents intended to identify mutations in the RecQ protein-like 4 (RECQL4) gene, located at chromosome 8q24.3, whose exact function is not known but appears to maintain the stability of cellular DNA in replication and repair. This genetic mutation has been identified in patients with Rothmund-Thompson syndrome and Baller-Gerold syndrome.
Entry Terms : "Rothmund-Thomson Syndrome Gene Mutation Reagents" , "Rapadillino Syndrome Gene Mutation Reagents" , "RECQL4 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, RECQL4"
UMDC code : 24936