Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RYR1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RYR1

Definition : Molecular assay reagents intended to identify mutations in the ryanodine receptor 1 (skeletal) (RYR1) gene, located at chromosome 19q13.1, which encodes for a receptor found in skeletal muscle. The encoded protein functions as a calcium-release channel. Inherited genetic mutations are associated with congenital myopathies, including central core disease (CCD) and multiminicore diseases (MmD); mutations are also associated with malignant hyperthermia (MH) susceptibility.

Entry Terms : "Malignant Hyperthermia Susceptibility (MHS) Gene Mutation Reagents" , "Multicore Myopathy Gene Mutation Reagents" , "Multicore Disease Gene Mutation Reagents" , "Multiminicore Disease (MmD) Gene Mutation Reagents" , "Central Core Disease (CCD) Gene Mutation Reagents" , "RYR1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, RYR1"

UMDC code : 24946

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University of Pittsburgh Medical Center

Company Type: Parent

1-1 of 1 Match(es).