Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report; Lindsay Zetzsche, Ralitza Gavrilova, Devin Oglesbee; 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations, Phoenix Convention Center North Building

Keywords: Friedreich ataxia, expansion allele in FXN, carrier for FRDA, blood protein frataxin level.