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A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Pubmed ID: 
21830088
Year: 
2011
Month: 
NOV
Volume: 
12
Issue: 
4
Citation: 
Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB. A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Neurogenetics 12 (4) : 307 - 313(2011) PubMed