Complete FXN Deletion in a Patient with Friedreich's Ataxia

Complete FXN Deletion in a Patient with Friedreich's Ataxia . Ans M.W. van den Ouweland, Rick van Minkelen, Galhana M. Bolman, Cokkie H. Wouters, Cindy Becht-Noordermeer, Wout H. Deelen, J. Marianne C. Deelen–Manders, Elly P.F. Ippel, Jasper Saris, and Dicky J.J. Halley. Genetic Testing and Molecular Biomarkers. -Not available-, ahead of print. doi:10.1089/gtmb.2012.0012.

Keywords: Friedreich's ataxia (FRDA), homozygous, GAA repeat expansion, FXN, heterozygous, point mutation, intragenic FXN deletion.