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

Definition : Molecular assay reagents intended to identify mutations in the Freidreich's ataxia (FRDA) gene, located at chromosome 9q13-q21.1, which encodes for a mitochondrial protein that belongs to the fraxin family. The protein regulates mitochondrial iron transport and respiration. Mutations at this locus have been identified in some patients with Friedreich's ataxia and Babinski's reflex; these mutations are also associated with cardiomyopathy and diabetes mellitus.

Entry Terms : "Babinski's Reflex Gene Mutation Detection Reagents" , "Friedreich Ataxia Gene Mutation Detection Reagents" , "Ataxia Gene Mutation Detection Reagents" , "FRDA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, FRDA"

UMDC code : 24434

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