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Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy
Garland, Jennifer, Stephen, Joshi, Class, Bradley, Gruber, Angela, Ciccone, Carla, Poliak, Aaron, Hayes, Christina P., Singhal, Vandana, Slota, Christina, Perreault, John, Gavrilova, Ralitza, Shrader,Volume:
5
Language:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.300
Date:
July, 2017
File:
PDF, 1.73 MB
english, 2017