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

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

Definition : Molecular assay reagents intended to identify mutations in the muscle glycogen phosphorylase (PYGM) gene, located at chromosome 11q12-q13.2, which encodes for a protein that catalyzes the hydrolysis of intracellular glycogen. This genetic mutation has been identified in patients with hereditary glycogen storage disease type V (McArdle's disease).

Entry Terms : "McArdle Disease Gene Mutation Reagents" , "Glycogen Storage Disease Gene Mutation Reagents" , "Hereditary Glycogen Storage Disease type V Gene Mutation Reagents" , "PYGM Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PYGM"

UMDC code : 24933

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