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FARAFARA Cure FA

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

Friedreich ataxia (FRDA) is caused by a GAA expansion in the first intron of the FXN gene, which encodes frataxin. Four percent of patients harbor a point mutation on one allele and a GAA expansion on the other. We studied an Italian patient presenting with symptoms suggestive of FRDA, and carrying a single expanded 850 GAA allele.

Read More: Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene


About the Author

Jen Farmer

Jen Farmer

Executive Director

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