IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TTPA
Definition : Molecular assay reagents intended to identify mutations in the titin (TTN) gene, located at chromosome 2q31, which encodes for a key component in the assembly and function of striated muscle. This inherited genetic mutation has been identified in patients with udd distal myopathy; it is also associated with familial hypertrophic cardiomyopathy type 9 (CMH9).
Entry Terms : "Friedreich-Like Ataxia with Vitamin E Deficiency Gene Mutation Reagents" , "Familial Isolated Vitamin E Deficiency Gene Mutation Reagents" , "Ataxia with Isolated Vitamin E Deficiency (AVED) Gene Mutation Reagents" , "TTPA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TTPA"
UMDC code : 25000