Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A; Journal of neurology : 2012 Nov 30

Keywords: Friedreich ataxia (FRDA), FXN gene, frataxin, point mutation, novel deletion in exon 5a (c.572delC).