Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.Published in:Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300By:Garland, Jennifer;Stephen, Joshi;Class, Bradley;Gruber, Angela;Ciccone, Carla;Poliak, Aaron;Hayes, Christina P.;Singhal, Vandana;Slota, Christina;Perreault, John;Gavrilova, Ralitza;Shrader, Joseph A.;Chittiboina, Prashant;Joe, Galen;Heiss, John;Gahl, William A.;Huizing, Marjan;Carrillo, Nuria;Malicdan, May Christine V.Publication type:Article