IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GPR56
Definition : Molecular assay reagents intended to identify mutations in the G protein-coupled receptor 56 (GPR56) gene, located at chromosome 16q12.2-q21, which encodes for a protein involved in cell-to-cell interactions. Mutations at this locus have been identified in patients with bilateral frontoparietal polymicrogyria (BFPP) but not in patients with other forms (e.g., unilateral, bilateral generalized, bilateral perisylvian) of polymicrogyria.
Entry Terms : "Bilateral Frontoparietal Polymicrogyria (BFPP) Gene Mutation Detection Reagents" , "Polymicrogyria Gene Mutation Detection Reagents" , "GPR56 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GPR56"
UMDC code : 24452