BioTechniques, Vol. 50, No. 3, March 2011
Timothy P. Holloway*1,2, Simone M. Rowley*1, Martin B. Delatycki1,3, 4, and Joseph P. Sarsero1,2, 3
1Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
2Cell and Gene Therapy, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
3Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
4Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
"simple and rapid PCR- and restriction enzyme–based assay", "Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity"
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