PropertyValue
?: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.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all