IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MT-TK
Definition : Molecular assay reagents intended to identify mutations in the mitochondrially encoded tRNA lysine (MTTK) gene, located in the mitochondrial genome, which encodes for tRNA lysine found in the mitochondria and is important in protein synthesis. Mutations at this locus have been identified in patients with mitochondrial disorders and myoclonic epilepsy associated with ragged red fibers (MERRF).
Entry Terms : "MERRF Syndrome Gene Mutation Reagents" , "Mitochondrial Disorders/Myoclonic Epilepsy/Ragged Red Fibers (MERRF) Syndrome Gene Mutation Reagents" , "Mitochondrial Disorder Gene Mutation Reagents" , "MT-TK Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MT-TK"
UMDC code : 24627