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

Definition : Molecular assay reagents intended to identify mutations in the sacsin (SACS) gene, located at chromosome 13q12, which encodes for a protein found in the brain, skin cells, skeletal muscle, and pancreas that may function in chaperone-mediated protein folding, but its exact function is unknown. These inherited genetic mutations have been identified in patients with spastic ataxia of Charlevoix-Saguenay (ARSACS).

Entry Terms : "Spastic Ataxia of Charlevoix-Saguenay (SACS) Gene Mutation Reagents" , "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Gene Mutation Reagents" , "Hereditary Spastic Paraplegia Gene Mutation Reagents" , "SACS Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SACS"

UMDC code : 24948

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