Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P. Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A. Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A. Gahl, Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan

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Medicine & Life Sciences