IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, KCNJ11
Definition : Molecular assay reagents intended to identify mutations in the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) gene, located at chromosome 11p15.1, which encodes for a protein that an is integral membrane protein and inward-rectifier type potassium channel. Mutations at this locus have been identified in patients with familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
Entry Terms : "KCNJ11-Related Hyperinsulinism Gene Mutation Reagents" , "Familial Hyperinsulinism (FHI) Gene Mutation Reagents" , "Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Gene Mutation Detection Reagents" , "Hyperinsulinism Gene Mutation Detection Reagents" , "KCNJ11 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, KCNJ11"
UMDC code : 24581