A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype
Marguerite V Evans-Galea, Louise A Corben, Justin Hasell, Charles A Galea, Michael C Fahey, Desiree du Sart, Martin B Delatycki
Neurogenetics | SPRINGER | Published : 2011
The authors would like to sincerely thank the participating family as well as Gabrielle Wilson and Paul Lockhart for their assistance. This study was supported by funding from the Friedreich Ataxia Research Alliance, USA, the Friedreich Ataxia Research Association, Australasia, the Australian Rotary Health Research Fund, the North Brighton Rotary Club, the Collier Charitable Fund of Australia and the Victorian Government Operational Infrastructure Support Program. MBD is a National Health and Medical Research Council of Australia Practitioner Fellow.